Variant report

Variant	nsv600660
Chromosome Location	chr5:179214251-179231248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1419)
CpG islands
(count:2201)
Chromatin interactive
region (count:50)
LncRNA
region (count:4)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1419 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
2	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
4	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
7	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
8	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:179228740-179229314	A549	lung:	n/a	n/a
11	BCL3	chr5:179223079-179223543	GM12878	blood:	n/a	n/a
12	BCL3	chr5:179223054-179224057	A549	lung:	n/a	chr5:179223789-179223798 chr5:179223959-179223972
13	BCL3	chr5:179223068-179223847	A549	lung:	n/a	chr5:179223789-179223798
14	BCL3	chr5:179222480-179223805	GM12878	blood:	n/a	chr5:179223789-179223798
15	BCL3	chr5:179228673-179229260	A549	lung:	n/a	n/a
16	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
17	BCLAF1	chr5:179228760-179229168	GM12878	blood:	n/a	n/a
18	BCLAF1	chr5:179228755-179229209	GM12878	blood:	n/a	n/a
19	BCLAF1	chr5:179223083-179223663	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:179223062-179223634	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:179228840-179229271	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:179228930-179229106	K562	blood:	n/a	n/a
23	BHLHE40	chr5:179230689-179230840	K562	blood:	n/a	n/a
24	BHLHE40	chr5:179223073-179223566	GM12878	blood:	n/a	n/a
25	BHLHE40	chr5:179220884-179221019	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:179223155-179223492	HepG2	liver:	n/a	n/a
27	BHLHE40	chr5:179231154-179231372	K562	blood:	n/a	n/a
28	BHLHE40	chr5:179230771-179230856	GM12878	blood:	n/a	n/a
29	BRCA1	chr5:179223685-179223709	HepG2	liver:	n/a	n/a
30	BRCA1	chr5:179223323-179223490	GM12878	blood:	n/a	n/a
31	CCNT2	chr5:179223273-179223720	K562	blood:	n/a	n/a
32	CCNT2	chr5:179222707-179222891	K562	blood:	n/a	n/a
33	CEBPB	chr5:179229927-179230039	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr5:179231078-179231117	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:179223236-179223333	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr5:179214938-179215119	HepG2	liver:	n/a	n/a
37	CEBPB	chr5:179223187-179223281	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPD	chr5:179223154-179223753	HepG2	liver:	n/a	n/a
39	CHD1	chr5:179223194-179223534	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr5:179223149-179223623	GM12878	blood:	n/a	n/a
41	CHD2	chr5:179223188-179223571	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr5:179223133-179223502	HepG2	liver:	n/a	n/a
43	CHD2	chr5:179222334-179222507	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr5:179222299-179222471	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr5:179222364-179222514	GM12878	blood:	n/a	n/a
46	CHD2	chr5:179223137-179223426	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr5:179222316-179222670	HepG2	liver:	n/a	n/a
48	CHD2	chr5:179223653-179223908	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr5:179220762-179220902	GM12878	blood:	n/a	n/a
50	CHD2	chr5:179230450-179230521	GM12878	blood:	n/a	n/a

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179223454-179223504	HCT-116	colon:	n/a
2	chr5:179226172-179226222	HCM	heart:	n/a
3	chr5:179228859-179228909	GM06990	blood:	n/a
4	chr5:179228489-179228539	SKMC	muscle:	n/a
5	chr5:179224751-179224801	K562	blood:	n/a
6	chr5:179223454-179223504	HCT-116	colon:	n/a
7	chr5:179226172-179226222	HCM	heart:	n/a
8	chr5:179228859-179228909	GM06990	blood:	n/a
9	chr5:179228489-179228539	SKMC	muscle:	n/a
10	chr5:179224751-179224801	K562	blood:	n/a
11	chr5:179230709-179230759	HRPEpiC	eye:	n/a
12	chr5:179228635-179228685	NB4	blood:	n/a
13	chr5:179220795-179220845	SKMC	muscle:	n/a
14	chr5:179228635-179228685	HIPEpiC	eye:	n/a
15	chr5:179221090-179221140	A549	lung:	n/a
16	chr5:179220820-179220870	SK-N-SH_RA	brain:	n/a
17	chr5:179225558-179225608	MCF-7	breast:	n/a
18	chr5:179229353-179229403	SAEC	small airway:	n/a
19	chr5:179225039-179225089	AG09309	skin:	n/a
20	chr5:179223116-179223166	K562	blood:	n/a
21	chr5:179220274-179220324	GM19239	blood:	n/a
22	chr5:179231109-179231159	GM12891	blood:	n/a
23	chr5:179228859-179228909	HUVEC	blood vessel:	n/a
24	chr5:179228635-179228685	BE2_C	brain:	n/a
25	chr5:179220589-179220639	RPTEC	kidney:	n/a
26	chr5:179225537-179225587	PANC-1	pancreas:	n/a
27	chr5:179225977-179226027	IMR90	lung:	fetal
28	chr5:179220545-179220595	ECC-1	luminal epithelium:	n/a
29	chr5:179225504-179225554	AoSMC	blood vessel:	n/a
30	chr5:179225039-179225089	MCF10A-Er-Src	breast:	n/a
31	chr5:179225558-179225608	HCM	heart:	n/a
32	chr5:179228635-179228685	GM12891	blood:	n/a
33	chr5:179228859-179228909	NHBE	bronchial:	n/a
34	chr5:179225558-179225608	NT2-D1	testis:	n/a
35	chr5:179224984-179225034	NB4	blood:	n/a
36	chr5:179220589-179220639	A549	lung:	n/a
37	chr5:179228489-179228539	ECC-1	luminal epithelium:	n/a
38	chr5:179226186-179226236	HMEC	breast:	n/a
39	chr5:179224751-179224801	HCM	heart:	n/a
40	chr5:179224984-179225034	BJ	skin:	n/a
41	chr5:179227268-179227318	HRE	kidney:	n/a
42	chr5:179224984-179225034	NT2-D1	testis:	n/a
43	chr5:179228635-179228685	GM06990	blood:	n/a
44	chr5:179226186-179226236	AG04449	skin:	fetal
45	chr5:179225515-179225565	K562	blood:	n/a
46	chr5:179220274-179220324	HCM	heart:	n/a
47	chr5:179225977-179226027	AoSMC	blood vessel:	n/a
48	chr5:179221059-179221109	AoSMC	blood vessel:	n/a
49	chr5:179225537-179225587	A549	lung:	n/a
50	chr5:179222639-179222689	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
2	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
3	chr5:179210375..179212924-chr5:179213806..179215338,2	K562	blood:
4	chr5:179164536..179166178-chr5:179223167..179224801,2	MCF-7	breast:
5	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
6	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
7	chr5:179213701..179215933-chr5:179218776..179220680,2	K562	blood:
8	chr5:179192355..179194197-chr5:179212856..179215229,2	MCF-7	breast:
9	chr5:179189945..179192800-chr5:179216394..179217969,2	K562	blood:
10	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
11	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
12	chr5:179205387..179207447-chr5:179218747..179220491,2	K562	blood:
13	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
14	chr5:179205957..179207615-chr5:179218348..179219920,2	MCF-7	breast:
15	chr5:179126009..179127718-chr5:179220885..179222493,2	K562	blood:
16	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
17	chr5:179210097..179212795-chr5:179213653..179217175,3	MCF-7	breast:
18	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
19	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
20	chr5:179207814..179210287-chr5:179215624..179217168,2	MCF-7	breast:
21	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:
22	chr5:179189775..179190581-chr5:179231187..179232028,2	K562	blood:
23	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
24	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
25	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
26	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
27	chr5:179192837..179195567-chr5:179212671..179216209,3	K562	blood:
28	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
29	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:
30	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
31	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
32	chr5:179211965..179215539-chr5:179247804..179250502,3	K562	blood:
33	chr5:179203387..179205916-chr5:179217553..179219501,2	MCF-7	breast:
34	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
35	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
36	chr5:179197877..179198480-chr5:179223009..179223771,2	MCF-7	breast:
37	chr5:179213701..179215933-chr5:179218776..179220680,2	K562	blood:
38	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:
39	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
40	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
41	chr5:179158622..179161306-chr5:179229255..179232070,3	MCF-7	breast:
42	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
43	chr5:179127269..179130217-chr5:179212553..179215180,2	K562	blood:
44	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
45	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
46	chr5:179208245..179209901-chr5:179214926..179216675,2	MCF-7	breast:
47	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
48	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
49	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
50	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-1	chr5:179215129-179215154	NONHSAT105621
2	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621
3	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
4	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627

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
ENSG00000127022	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000204628	chromatin interactions
ERC1	Mature miRNA region
PSMC5	Mature miRNA region
ACLY	Mature miRNA region
PITPNB	Mature miRNA region
ADPRHL2	Mature miRNA region
PTPRF	Mature miRNA region
PPP4C	Mature miRNA region
RNF40	Mature miRNA region
NF2	Mature miRNA region
TUBG1	Mature miRNA region
RPL7A	Mature miRNA region
STAT5B	Mature miRNA region
TNRC6B	Mature miRNA region
PRDX4	Mature miRNA region
ABCC5	Mature miRNA region
VWA8	Mature miRNA region
PHRF1	Mature miRNA region
EEF2	Mature miRNA region
SFPQ	Mature miRNA region
COIL	Mature miRNA region
PPP6R1	Mature miRNA region
HNRNPA3	Mature miRNA region
RUVBL2	Mature miRNA region
HIST4H4	Mature miRNA region
KRT28	Mature miRNA region
ITGA5	Mature miRNA region
ZNF264	Mature miRNA region
FMNL2	Mature miRNA region
PTBP3	Mature miRNA region
SCAMP5	Mature miRNA region
CRISP3	Mature miRNA region
MAD2L2	Mature miRNA region
C2orf44	Mature miRNA region
HNRNPD	Mature miRNA region
CTCF	Mature miRNA region
CDKN1A	Mature miRNA region
GAPDH	Mature miRNA region
PAK4	Mature miRNA region
OTUD7B	Mature miRNA region
PHC1	Mature miRNA region
CEP350	Mature miRNA region
SRP72	Mature miRNA region
CEP55	Mature miRNA region
AHCYL1	Mature miRNA region
REXO2	Mature miRNA region
LDOC1L	Mature miRNA region
HADHB	Mature miRNA region
CTNND1	Mature miRNA region
FOXP1	Mature miRNA region
PRKRIP1	Mature miRNA region
ARL6IP1	Mature miRNA region
SRCAP	Mature miRNA region
CEP152	Mature miRNA region
OPA3	Mature miRNA region
NAPEPLD	Mature miRNA region
CDC42EP4	Mature miRNA region
CTDNEP1	Mature miRNA region
POLR2D	Mature miRNA region
INO80D	Mature miRNA region
ACOT7	Mature miRNA region
ZMYM2	Mature miRNA region
YWHAZ	Mature miRNA region
CHCHD2	Mature miRNA region
MPP2	Mature miRNA region
TRRAP	Mature miRNA region
SCD	Mature miRNA region
SAE1	Mature miRNA region
EIF4G2	Mature miRNA region
C19orf10	Mature miRNA region
SORBS3	Mature miRNA region
DCTD	Mature miRNA region
NME2	Mature miRNA region
INTS10	Mature miRNA region
BAP1	Mature miRNA region
RPS15	Mature miRNA region
NEU3	Mature miRNA region
ZNF687	Mature miRNA region
RPGRIP1L	Mature miRNA region
ZDHHC7	Mature miRNA region
KIF24	Mature miRNA region
HNRNPA1	Mature miRNA region
KCTD15	Mature miRNA region
TARDBP	Mature miRNA region
NAA50	Mature miRNA region
EML1	Mature miRNA region
KMT2D	Mature miRNA region
RPL3	Mature miRNA region
CPNE1	Mature miRNA region
CSDE1	Mature miRNA region
LRBA	Mature miRNA region
BET1L	Mature miRNA region
SNX12	Mature miRNA region
PHGDH	Mature miRNA region
SAFB	Mature miRNA region
DCAF7	Mature miRNA region
TUSC3	Mature miRNA region
BRD2	Mature miRNA region
CTNNBL1	Mature miRNA region
HYPK	Mature miRNA region
SLC39A7	Mature miRNA region
AIF1L	Mature miRNA region
KPNB1	Mature miRNA region
ALS2	Mature miRNA region
MDK	Mature miRNA region
CLSTN3	Mature miRNA region
HIST1H3G	Mature miRNA region
SLC16A13	Mature miRNA region
KDM5C	Mature miRNA region
NUP210	Mature miRNA region
GPI	Mature miRNA region
HNRNPUL1	Mature miRNA region
GTF2I	Mature miRNA region
DDX23	Mature miRNA region
AP2M1	Mature miRNA region
C9orf114	Mature miRNA region
FEN1	Mature miRNA region
SUPT5H	Mature miRNA region
IGF2BP1	Mature miRNA region
TIA1	Mature miRNA region
FOXK1	Mature miRNA region
PHF8	Mature miRNA region
EPB41L2	Mature miRNA region
CPT1B	Mature miRNA region
DAG1	Mature miRNA region
TSC22D3	Mature miRNA region
ATP5A1	Mature miRNA region
TUBA1B	Mature miRNA region
SIK2	Mature miRNA region
CDIPT	Mature miRNA region
PBRM1	Mature miRNA region
NXPE3	Mature miRNA region
LRIT1	Mature miRNA region
MED19	Mature miRNA region
MAPKAPK2	Mature miRNA region

Extended variants
information (count: 922 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1469021	chr5:179214251-179214252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145625771	chr5:179214252-179214253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148473668	chr5:179214264-179214265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190561522	chr5:179214285-179214286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535580292	chr5:179214313-179214314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546819598	chr5:179214320-179214321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566744565	chr5:179214338-179214339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183556418	chr5:179214428-179214429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370441946	chr5:179214435-179214436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs490122	chr5:179214450-179214451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558845623	chr5:179214507-179214508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532191075	chr5:179214557-179214558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577656586	chr5:179214580-179214581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201265149	chr5:179214615-179214616	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544465682	chr5:179214623-179214624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575111332	chr5:179214741-179214742	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188649779	chr5:179214744-179214745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543551082	chr5:179214756-179214757	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12522926	chr5:179214818-179214819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs548660778	chr5:179214882-179214883	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117046025	chr5:179214908-179214909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377396862	chr5:179214909-179214910	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538634434	chr5:179214910-179214911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs36026931	chr5:179214959-179214960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191350363	chr5:179214976-179214977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150992223	chr5:179214982-179214983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552619162	chr5:179215011-179215012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554234990	chr5:179215012-179215013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183115084	chr5:179215024-179215025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187610107	chr5:179215098-179215099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75695731	chr5:179215109-179215110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191325042	chr5:179215124-179215125	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568283225	chr5:179215143-179215144	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs200964027	chr5:179215177-179215178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142145655	chr5:179215179-179215180	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571831494	chr5:179215226-179215227	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539015312	chr5:179215275-179215276	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146650613	chr5:179215330-179215331	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577446979	chr5:179215389-179215390	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147900791	chr5:179215445-179215446	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79659554	chr5:179215453-179215454	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574929470	chr5:179215501-179215502	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542464540	chr5:179215515-179215516	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35122400	chr5:179215544-179215545	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368286123	chr5:179215564-179215565	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67832593	chr5:179215627-179215628	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141553739	chr5:179215634-179215635	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150390441	chr5:179215660-179215661	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564550181	chr5:179215704-179215705	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531495077	chr5:179215730-179215731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	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:1314 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:179203400-179218200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
8	chr5:179205000-179218800	Weak transcription	Right Atrium	heart
9	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:179206000-179220200	Weak transcription	Ovary	ovary
12	chr5:179206400-179214600	Weak transcription	HepG2	liver
13	chr5:179206400-179219200	Weak transcription	Gastric	stomach
14	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
15	chr5:179207200-179215200	Weak transcription	HSMMtube	muscle
16	chr5:179207200-179218600	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:179207200-179218800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:179207200-179220600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:179207400-179215200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:179207400-179218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:179207400-179219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
23	chr5:179207600-179218800	Weak transcription	Fetal Lung	lung
24	chr5:179207600-179219200	Weak transcription	Colonic Mucosa	Colon
25	chr5:179207600-179219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:179207600-179219400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:179207600-179220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:179207600-179220200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:179207600-179220200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:179207600-179220200	Weak transcription	Pancreas	Pancrea
31	chr5:179207600-179220600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
34	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
36	chr5:179207800-179215200	Weak transcription	Liver	Liver
37	chr5:179207800-179216200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:179207800-179218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:179207800-179219200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:179207800-179220200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:179207800-179220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:179207800-179220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:179207800-179220400	Weak transcription	Brain Angular Gyrus	brain
44	chr5:179207800-179220400	Weak transcription	HSMM	muscle
45	chr5:179207800-179220600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:179208000-179215000	Weak transcription	NH-A	brain
48	chr5:179208000-179219400	Weak transcription	Primary B cells from cord blood	blood
49	chr5:179208000-179220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:179208000-179220200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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