Variant report

Variant	nsv600664
Chromosome Location	chr5:179221789-179228623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:768)
CpG islands
(count:1222)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
2	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
5	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
7	BCL3	chr5:179222480-179223805	GM12878	blood:	n/a	chr5:179223789-179223798
8	BCL3	chr5:179223054-179224057	A549	lung:	n/a	chr5:179223789-179223798 chr5:179223959-179223972
9	BCL3	chr5:179223068-179223847	A549	lung:	n/a	chr5:179223789-179223798
10	BCL3	chr5:179223079-179223543	GM12878	blood:	n/a	n/a
11	BCLAF1	chr5:179223062-179223634	GM12878	blood:	n/a	n/a
12	BCLAF1	chr5:179223083-179223663	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:179223073-179223566	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:179223155-179223492	HepG2	liver:	n/a	n/a
15	BRCA1	chr5:179223685-179223709	HepG2	liver:	n/a	n/a
16	BRCA1	chr5:179223323-179223490	GM12878	blood:	n/a	n/a
17	CCNT2	chr5:179223273-179223720	K562	blood:	n/a	n/a
18	CCNT2	chr5:179222707-179222891	K562	blood:	n/a	n/a
19	CEBPB	chr5:179223187-179223281	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr5:179223236-179223333	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr5:179223154-179223753	HepG2	liver:	n/a	n/a
22	CHD1	chr5:179223194-179223534	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr5:179223149-179223623	GM12878	blood:	n/a	n/a
24	CHD2	chr5:179222316-179222670	HepG2	liver:	n/a	n/a
25	CHD2	chr5:179222299-179222471	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr5:179223188-179223571	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr5:179223133-179223502	HepG2	liver:	n/a	n/a
28	CHD2	chr5:179222334-179222507	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr5:179223653-179223908	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr5:179222364-179222514	GM12878	blood:	n/a	n/a
31	CHD2	chr5:179223137-179223426	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr5:179223113-179223524	GM12878	blood:	n/a	n/a
33	CREB1	chr5:179222843-179223534	A549	lung:	n/a	n/a
34	CREB1	chr5:179222109-179223993	HepG2	liver:	n/a	n/a
35	CTBP2	chr5:179223061-179224132	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr5:179222953-179223515	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:179223107-179223442	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:179223160-179223310	GM12872	blood:	n/a	n/a
39	CTCF	chr5:179222860-179223010	HCFaa	heart:	n/a	n/a
40	CTCF	chr5:179223200-179223350	GM12868	blood:	n/a	n/a
41	CTCF	chr5:179223560-179223710	AG09309	skin:	n/a	n/a
42	CTCF	chr5:179222760-179222910	GM12868	blood:	n/a	n/a
43	CTCF	chr5:179222800-179222950	AG04449	skin:	n/a	n/a
44	CTCF	chr5:179223099-179223480	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr5:179223660-179223810	GM12864	blood:	n/a	n/a
46	CTCF	chr5:179223160-179223310	AG09309	skin:	n/a	n/a
47	CTCF	chr5:179223180-179223330	GM12869	blood:	n/a	n/a
48	CTCF	chr5:179223200-179223350	NHEK	skin:	n/a	n/a
49	CTCF	chr5:179222020-179222170	GM12875	blood:	n/a	n/a
50	CTCF	chr5:179223520-179223670	HCFaa	heart:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179226172-179226222	GM12892	blood:	n/a
2	chr5:179225039-179225089	T-47D	breast:	n/a
3	chr5:179226172-179226222	GM12892	blood:	n/a
4	chr5:179225039-179225089	T-47D	breast:	n/a
5	chr5:179228489-179228539	HAEpiC	amniotic membrane:	n/a
6	chr5:179226186-179226236	HCM	heart:	n/a
7	chr5:179225504-179225554	BJ	skin:	n/a
8	chr5:179225515-179225565	HUVEC	blood vessel:	n/a
9	chr5:179225479-179225529	A549	lung:	n/a
10	chr5:179223454-179223504	RPTEC	kidney:	n/a
11	chr5:179224563-179224613	AoSMC	blood vessel:	n/a
12	chr5:179228489-179228539	MCF10A-Er-Src	breast:	n/a
13	chr5:179223454-179223504	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:179223116-179223166	HRE	kidney:	n/a
15	chr5:179223116-179223166	HCF	heart:	n/a
16	chr5:179225039-179225089	U87	brain:	n/a
17	chr5:179223454-179223504	PANC-1	pancreas:	n/a
18	chr5:179224984-179225034	SK-N-SH	brain:	n/a
19	chr5:179227268-179227318	ovcar-3	ovarian:	n/a
20	chr5:179226753-179226803	GM06990	blood:	n/a
21	chr5:179225504-179225554	HNPCEpiC	eye:	n/a
22	chr5:179225515-179225565	HEEpiC	esophagus:	n/a
23	chr5:179225558-179225608	H1-hESC	embryonic stem cell:	embryo
24	chr5:179226172-179226222	IMR90	lung:	fetal
25	chr5:179225504-179225554	SK-N-MC	brain:	n/a
26	chr5:179225977-179226027	HCT-116	colon:	n/a
27	chr5:179227268-179227318	HCF	heart:	n/a
28	chr5:179224836-179224886	HCF	heart:	n/a
29	chr5:179226753-179226803	AG10803	skin:	n/a
30	chr5:179225537-179225587	NHDF-neo	bronchial:	n/a
31	chr5:179226172-179226222	AoSMC	blood vessel:	n/a
32	chr5:179228489-179228539	Hela-S3	cervix:	n/a
33	chr5:179225977-179226027	A549	lung:	n/a
34	chr5:179225479-179225529	HEEpiC	esophagus:	n/a
35	chr5:179223116-179223166	HAEpiC	amniotic membrane:	n/a
36	chr5:179225039-179225089	PrEC	prostate:	n/a
37	chr5:179222639-179222689	HRE	kidney:	n/a
38	chr5:179223116-179223166	PANC-1	pancreas:	n/a
39	chr5:179224984-179225034	RPTEC	kidney:	n/a
40	chr5:179226009-179226059	HCF	heart:	n/a
41	chr5:179224836-179224886	Hepatocyte	liver:	n/a
42	chr5:179225537-179225587	Hepatocyte	liver:	n/a
43	chr5:179224751-179224801	NHDF-neo	bronchial:	n/a
44	chr5:179222639-179222689	NHDF-neo	bronchial:	n/a
45	chr5:179227268-179227318	HAEpiC	amniotic membrane:	n/a
46	chr5:179226186-179226236	U87	brain:	n/a
47	chr5:179226753-179226803	SK-N-SH	brain:	n/a
48	chr5:179225515-179225565	HRCEpiC	kidney:	n/a
49	chr5:179225558-179225608	HCPEpiC	choroid plexus:	n/a
50	chr5:179225537-179225587	SK-N-MC	brain:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
2	chr5:179164536..179166178-chr5:179223167..179224801,2	MCF-7	breast:
3	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
4	chr5:179126009..179127718-chr5:179220885..179222493,2	K562	blood:
5	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
6	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
7	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
8	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:
9	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
10	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
11	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
12	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
13	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:
14	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
15	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
16	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
17	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
18	chr5:179197877..179198480-chr5:179223009..179223771,2	MCF-7	breast:
19	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
20	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
21	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
22	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
23	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
24	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
25	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
26	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1229-3p	chr5:179225278-179225300	MIMAT0005584
hsa-miR-1229-5p	chr5:179225323-179225346	MIMAT0022942

No data

Variant related genes	Relation type
LTC4S	TF binding region
SQSTM1	TF binding region
MGAT4B	TF binding region
MIR1229	TF binding region
LTC4S	CpG island
SQSTM1	CpG island
MGAT4B	CpG island
MIR1229	CpG island
ENSG00000270022	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000169045	chromatin interactions
HNRNPUL1	Mature miRNA region
PHRF1	Mature miRNA region
RPL3	Mature miRNA region
IGF2BP1	Mature miRNA region
DDX23	Mature miRNA region
CLSTN3	Mature miRNA region
INO80D	Mature miRNA region
FEN1	Mature miRNA region
SCAMP5	Mature miRNA region
SCD	Mature miRNA region
RUVBL2	Mature miRNA region
MAPKAPK2	Mature miRNA region
SORBS3	Mature miRNA region
NXPE3	Mature miRNA region
KDM5C	Mature miRNA region
CDKN1A	Mature miRNA region
COIL	Mature miRNA region
NF2	Mature miRNA region
C19orf10	Mature miRNA region
HNRNPD	Mature miRNA region
TIA1	Mature miRNA region
ZNF264	Mature miRNA region
PHC1	Mature miRNA region
ACLY	Mature miRNA region
RPGRIP1L	Mature miRNA region
KMT2D	Mature miRNA region
SIK2	Mature miRNA region
INTS10	Mature miRNA region
AHCYL1	Mature miRNA region
PHGDH	Mature miRNA region
HNRNPA1	Mature miRNA region
PPP4C	Mature miRNA region
HADHB	Mature miRNA region
SFPQ	Mature miRNA region
SLC39A7	Mature miRNA region
SAE1	Mature miRNA region
C2orf44	Mature miRNA region
CDIPT	Mature miRNA region
NUP210	Mature miRNA region
CDC42EP4	Mature miRNA region
DCAF7	Mature miRNA region
LDOC1L	Mature miRNA region
C9orf114	Mature miRNA region
POLR2D	Mature miRNA region
GTF2I	Mature miRNA region
SUPT5H	Mature miRNA region
CSDE1	Mature miRNA region
BET1L	Mature miRNA region
CTCF	Mature miRNA region
EIF4G2	Mature miRNA region
PBRM1	Mature miRNA region
NEU3	Mature miRNA region
GPI	Mature miRNA region
NME2	Mature miRNA region
CPT1B	Mature miRNA region
FMNL2	Mature miRNA region
PPP6R1	Mature miRNA region
TSC22D3	Mature miRNA region
ARL6IP1	Mature miRNA region
LRIT1	Mature miRNA region
SRCAP	Mature miRNA region
CRISP3	Mature miRNA region
NAA50	Mature miRNA region
CTNND1	Mature miRNA region
DCTD	Mature miRNA region
MAD2L2	Mature miRNA region
OTUD7B	Mature miRNA region
TUBG1	Mature miRNA region
OPA3	Mature miRNA region
NAPEPLD	Mature miRNA region
ALS2	Mature miRNA region
CEP350	Mature miRNA region
EEF2	Mature miRNA region
CHCHD2	Mature miRNA region
RNF40	Mature miRNA region
KCTD15	Mature miRNA region
KRT28	Mature miRNA region
HNRNPA3	Mature miRNA region
ATP5A1	Mature miRNA region
DAG1	Mature miRNA region
TARDBP	Mature miRNA region
KIF24	Mature miRNA region
AP2M1	Mature miRNA region
BAP1	Mature miRNA region
EML1	Mature miRNA region
ZMYM2	Mature miRNA region
ZDHHC7	Mature miRNA region
PRDX4	Mature miRNA region
EPB41L2	Mature miRNA region
PSMC5	Mature miRNA region
CTNNBL1	Mature miRNA region
TRRAP	Mature miRNA region
FOXK1	Mature miRNA region
BRD2	Mature miRNA region
REXO2	Mature miRNA region
ACOT7	Mature miRNA region
MPP2	Mature miRNA region
ABCC5	Mature miRNA region
SRP72	Mature miRNA region
CEP152	Mature miRNA region
MDK	Mature miRNA region
AIF1L	Mature miRNA region
MED19	Mature miRNA region
CPNE1	Mature miRNA region
TUSC3	Mature miRNA region
PAK4	Mature miRNA region
ITGA5	Mature miRNA region
LRBA	Mature miRNA region
YWHAZ	Mature miRNA region
CTDNEP1	Mature miRNA region
FOXP1	Mature miRNA region
HIST4H4	Mature miRNA region
SNX12	Mature miRNA region
PITPNB	Mature miRNA region
GAPDH	Mature miRNA region
HYPK	Mature miRNA region
PRKRIP1	Mature miRNA region
RPS15	Mature miRNA region
KPNB1	Mature miRNA region
CEP55	Mature miRNA region
ERC1	Mature miRNA region
PHF8	Mature miRNA region
ADPRHL2	Mature miRNA region
SLC16A13	Mature miRNA region
HIST1H3G	Mature miRNA region
TNRC6B	Mature miRNA region
TUBA1B	Mature miRNA region
SAFB	Mature miRNA region
PTBP3	Mature miRNA region
VWA8	Mature miRNA region
RPL7A	Mature miRNA region
PTPRF	Mature miRNA region
ZNF687	Mature miRNA region
STAT5B	Mature miRNA region

Extended variants
information (count: 445 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs272431	chr5:179221789-179221790	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568748049	chr5:179221797-179221798	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs536199646	chr5:179221799-179221800	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs190736573	chr5:179221804-179221805	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs566102079	chr5:179221805-179221806	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs540027891	chr5:179221807-179221808	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs557943535	chr5:179221817-179221818	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs569830545	chr5:179221838-179221839	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs368977593	chr5:179221885-179221886	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs571020323	chr5:179221886-179221887	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs549602705	chr5:179221981-179221982	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs58826518	chr5:179222041-179222042	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182123489	chr5:179222044-179222045	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs541009518	chr5:179222070-179222071	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs116280439	chr5:179222128-179222129	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs577733234	chr5:179222143-179222144	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs545201267	chr5:179222177-179222178	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs186263070	chr5:179222195-179222196	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs530649684	chr5:179222216-179222217	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs535344572	chr5:179222297-179222298	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs560905665	chr5:179222329-179222330	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs528098272	chr5:179222350-179222351	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs558203852	chr5:179222353-179222354	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs370009631	chr5:179222369-179222370	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs41458244	chr5:179222377-179222378	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566385747	chr5:179222445-179222446	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs533330702	chr5:179222474-179222475	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs551985667	chr5:179222482-179222483	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs569795765	chr5:179222489-179222490	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs370246522	chr5:179222493-179222494	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs540038559	chr5:179222503-179222504	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs537198261	chr5:179222515-179222516	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs555333988	chr5:179222530-179222531	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs34011389	chr5:179222544-179222545	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs567283587	chr5:179222561-179222562	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs535037049	chr5:179222573-179222574	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs145738814	chr5:179222575-179222576	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs577901357	chr5:179222599-179222600	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs201270274	chr5:179222602-179222603	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs557239059	chr5:179222606-179222607	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs368527006	chr5:179222609-179222610	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs575400315	chr5:179222627-179222628	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs372785497	chr5:179222650-179222651	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs542702448	chr5:179222652-179222653	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs376663667	chr5:179222658-179222659	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs368740449	chr5:179222670-179222671	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs376751526	chr5:179222688-179222689	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs540238590	chr5:179222736-179222737	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs369800948	chr5:179222833-179222834	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs150331511	chr5:179222841-179222842	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
6	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:179209400-179222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
9	chr5:179218600-179222800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:179218800-179222000	Enhancers	Liver	Liver
11	chr5:179219200-179221800	Enhancers	HepG2	liver
12	chr5:179219400-179222200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:179219400-179222400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:179219400-179222400	Enhancers	Primary B cells from cord blood	blood
15	chr5:179219600-179222400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:179219600-179222400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:179219600-179222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:179219800-179221800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:179219800-179222200	Weak transcription	Fetal Brain Female	brain
20	chr5:179220000-179221800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:179220000-179222200	Enhancers	Fetal Lung	lung
22	chr5:179220000-179223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:179220200-179222000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:179220200-179222000	Enhancers	GM12878-XiMat	blood
25	chr5:179220200-179222200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:179220200-179222200	Weak transcription	Brain Germinal Matrix	brain
27	chr5:179220200-179222200	Enhancers	Pancreas	Pancrea
28	chr5:179220200-179222200	Enhancers	Stomach Mucosa	stomach
29	chr5:179220200-179222400	Enhancers	Primary T cells from cord blood	blood
30	chr5:179220200-179222400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:179220200-179223800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr5:179220400-179221800	Enhancers	Esophagus	oesophagus
33	chr5:179220400-179222000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:179220400-179222000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:179220400-179222200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:179220400-179222200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:179220400-179222600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:179220400-179222600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr5:179220600-179221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:179220600-179221800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr5:179220600-179221800	Flanking Active TSS	Left Ventricle	heart
42	chr5:179220600-179222000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr5:179220600-179222000	Enhancers	HMEC	breast
44	chr5:179220600-179222000	Enhancers	NHEK	skin
45	chr5:179220600-179222200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:179220600-179222400	Enhancers	Primary B cells from peripheral blood	blood
47	chr5:179220600-179222400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:179220600-179222400	Enhancers	NHLF	lung
49	chr5:179220600-179223000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr5:179220600-179223000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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