Variant report

Variant	nsv869583
Chromosome Location	chr3:47887111-47897773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:799)
CpG islands
(count:1221)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:5)

(count:799 , 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	ARID3A	chr3:47891558-47891772	HepG2	liver:	n/a	n/a
2	ATF2	chr3:47891515-47892057	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:47891643-47892403	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:47892483-47892944	GM12878	blood:	n/a	n/a
5	BCL3	chr3:47892185-47892595	A549	lung:	n/a	n/a
6	BCL3	chr3:47891647-47892404	K562	blood:	n/a	n/a
7	BCL3	chr3:47891382-47893204	A549	lung:	n/a	n/a
8	BCL3	chr3:47891755-47892988	GM12878	blood:	n/a	n/a
9	BCL3	chr3:47888625-47888971	A549	lung:	n/a	n/a
10	BCL3	chr3:47887980-47888576	K562	blood:	n/a	n/a
11	BCL3	chr3:47891139-47893184	K562	blood:	n/a	n/a
12	BCL3	chr3:47889213-47889853	K562	blood:	n/a	n/a
13	BCL3	chr3:47889913-47890438	A549	lung:	n/a	n/a
14	BCLAF1	chr3:47887934-47888340	K562	blood:	n/a	n/a
15	BCLAF1	chr3:47891819-47892330	GM12878	blood:	n/a	n/a
16	BCLAF1	chr3:47891764-47892275	K562	blood:	n/a	n/a
17	CCNT2	chr3:47892260-47892693	K562	blood:	n/a	n/a
18	CCNT2	chr3:47889698-47889891	K562	blood:	n/a	n/a
19	CCNT2	chr3:47888188-47888557	K562	blood:	n/a	n/a
20	CCNT2	chr3:47891145-47891643	K562	blood:	n/a	n/a
21	CCNT2	chr3:47890422-47890439	K562	blood:	n/a	n/a
22	CEBPD	chr3:47891510-47892809	K562	blood:	n/a	n/a
23	CHD2	chr3:47891709-47892771	K562	blood:	n/a	n/a
24	CHD2	chr3:47891238-47891243	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr3:47889199-47889301	HepG2	liver:	n/a	n/a
26	CHD2	chr3:47889923-47889924	K562	blood:	n/a	n/a
27	CHD2	chr3:47891088-47891190	K562	blood:	n/a	n/a
28	CHD2	chr3:47891736-47891952	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr3:47892433-47892628	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr3:47891220-47891370	HCM	heart:	n/a	n/a
31	CTCF	chr3:47891640-47891790	HPF	lung:	n/a	chr3:47891694-47891703
32	CTCF	chr3:47891580-47891730	SAEC	small airway:	n/a	chr3:47891694-47891703
33	CTCF	chr3:47894640-47894870	GM12870	blood:	n/a	n/a
34	CTCF	chr3:47888925-47889033	GM19238	blood:	n/a	n/a
35	CTCF	chr3:47888864-47889087	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr3:47891560-47891710	HVMF	connective:	n/a	chr3:47891694-47891703
37	CTCF	chr3:47891600-47891750	WERI-Rb-1	eye:	n/a	chr3:47891694-47891703
38	CTCF	chr3:47891620-47891770	HPAF	blood vessel:	n/a	chr3:47891694-47891703
39	CTCF	chr3:47891620-47891770	MCF-7	breast:	n/a	chr3:47891694-47891703
40	CTCF	chr3:47896722-47896783	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:47891609-47891805	Gliobla	brain:	n/a	chr3:47891694-47891703
42	CTCF	chr3:47891600-47891750	NHEK	skin:	n/a	chr3:47891694-47891703
43	CTCF	chr3:47894716-47894841	GM12891	blood:	n/a	n/a
44	CTCF	chr3:47888955-47888996	NHEK	skin:	n/a	n/a
45	CTCF	chr3:47891660-47891810	HUVEC	blood vessel:	n/a	chr3:47891694-47891703
46	CTCF	chr3:47891620-47891770	GM12871	blood:	n/a	chr3:47891694-47891703
47	CTCF	chr3:47888940-47889090	HEK293	kidney:	n/a	n/a
48	CTCF	chr3:47896678-47896846	K562	blood:	n/a	n/a
49	CTCF	chr3:47891600-47891750	NHLF	lung:	n/a	chr3:47891694-47891703
50	CTCF	chr3:47891620-47891770	AG10803	skin:	n/a	chr3:47891694-47891703

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47890815-47890865	NB4	blood:	n/a
2	chr3:47890815-47890865	NB4	blood:	n/a
3	chr3:47892279-47892329	Jurkat	blood:	n/a
4	chr3:47890988-47891038	NHDF-neo	bronchial:	n/a
5	chr3:47889960-47890010	HRE	kidney:	n/a
6	chr3:47893945-47893995	PrEC	prostate:	n/a
7	chr3:47893945-47893995	GM12891	blood:	n/a
8	chr3:47890260-47890310	MCF10A-Er-Src	breast:	n/a
9	chr3:47890012-47890062	AG09319	gingival:	n/a
10	chr3:47891289-47891339	HRPEpiC	eye:	n/a
11	chr3:47892279-47892329	NT2-D1	testis:	n/a
12	chr3:47891476-47891526	HCPEpiC	choroid plexus:	n/a
13	chr3:47887678-47887728	AoSMC	blood vessel:	n/a
14	chr3:47889040-47889090	GM06990	blood:	n/a
15	chr3:47891280-47891330	SAEC	small airway:	n/a
16	chr3:47888144-47888194	AG10803	skin:	n/a
17	chr3:47891289-47891339	H1-hESC	embryonic stem cell:	embryo
18	chr3:47890491-47890541	PANC-1	pancreas:	n/a
19	chr3:47888039-47888089	ECC-1	luminal epithelium:	n/a
20	chr3:47890012-47890062	NT2-D1	testis:	n/a
21	chr3:47892279-47892329	GM12892	blood:	n/a
22	chr3:47890260-47890310	AoSMC	blood vessel:	n/a
23	chr3:47889960-47890010	GM06990	blood:	n/a
24	chr3:47890260-47890310	GM06990	blood:	n/a
25	chr3:47889960-47890010	GM19239	blood:	n/a
26	chr3:47889960-47890010	Hela-S3	cervix:	n/a
27	chr3:47887956-47888006	ovcar-3	ovarian:	n/a
28	chr3:47891280-47891330	HCT-116	colon:	n/a
29	chr3:47891136-47891186	HRPEpiC	eye:	n/a
30	chr3:47889040-47889090	SK-N-SH_RA	brain:	n/a
31	chr3:47892279-47892329	HIPEpiC	eye:	n/a
32	chr3:47893945-47893995	HPAEpiC	pulmonary alveolar:	n/a
33	chr3:47889040-47889090	ovcar-3	ovarian:	n/a
34	chr3:47890988-47891038	PFSK-1	brain:	n/a
35	chr3:47889960-47890010	ECC-1	luminal epithelium:	n/a
36	chr3:47891136-47891186	GM12891	blood:	n/a
37	chr3:47891280-47891330	NB4	blood:	n/a
38	chr3:47890988-47891038	PrEC	prostate:	n/a
39	chr3:47892279-47892329	AG09309	skin:	n/a
40	chr3:47890491-47890541	SK-N-MC	brain:	n/a
41	chr3:47889040-47889090	HepG2	liver:	n/a
42	chr3:47890988-47891038	HAEpiC	amniotic membrane:	n/a
43	chr3:47890988-47891038	MCF-7	breast:	n/a
44	chr3:47887839-47887889	HRCEpiC	kidney:	n/a
45	chr3:47888144-47888194	SKMC	muscle:	n/a
46	chr3:47891032-47891082	AG09309	skin:	n/a
47	chr3:47891280-47891330	AG09319	gingival:	n/a
48	chr3:47891476-47891526	HEEpiC	esophagus:	n/a
49	chr3:47887678-47887728	HCM	heart:	n/a
50	chr3:47890988-47891038	HCPEpiC	choroid plexus:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47884998..47887572-chr3:47888539..47890466,3	MCF-7	breast:
2	chr3:47867869..47870552-chr3:47891035..47892717,2	K562	blood:
3	chr3:47865886..47868261-chr3:47892861..47895381,3	K562	blood:
4	chr3:47868165..47871085-chr3:47888354..47890401,2	K562	blood:
5	chr3:47891368..47892453-chr3:48031167..48032088,3	K562	blood:
6	chr3:47894013..47896194-chr3:48195587..48197389,2	MCF-7	breast:
7	chr3:47864742..47870552-chr3:47891000..47894370,6	K562	blood:
8	chr3:47880564..47882785-chr3:47892388..47894991,2	K562	blood:
9	chr3:47887175..47889070-chr3:48195624..48198080,2	K562	blood:
10	chr3:47867196..47869240-chr3:47888577..47890321,2	MCF-7	breast:
11	chr3:47884998..47887572-chr3:47888539..47890466,3	MCF-7	breast:
12	chr3:47893361..47897321-chr3:47899658..47903190,4	K562	blood:
13	chr3:47891319..47892184-chr3:48031144..48032035,2	MCF-7	breast:
14	chr3:47895316..47897321-chr3:47900052..47901819,3	K562	blood:
15	chr3:47867135..47871638-chr3:47884570..47887611,4	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1226-5p	chr3:47891045-47891070	MIMAT0005576
hsa-miR-1226-3p	chr3:47891098-47891119	MIMAT0005577

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAP4	hsa-miR-16-5p	chr3:47893477-47893498
2	MAP4	hsa-miR-103a-3p	chr3:47893478-47893499
3	MAP4	hsa-miR-16-5p	chr3:47893483-47893477
4	MAP4	hsa-miR-328-3p	chr3:47893370-47893392
5	MAP4	hsa-miR-103a-3p	chr3:47893484-47893478

Variant related genes	Relation type
DHX30	TF binding region
MIR1226	TF binding region
DHX30	CpG island
MIR1226	CpG island
ENSG00000132153	chromatin interactions
SLC35F6	Mature miRNA region
SIMC1	Mature miRNA region
ATXN2	Mature miRNA region
GPBP1L1	Mature miRNA region
GLUD2	Mature miRNA region
SORBS2	Mature miRNA region
DDT	Mature miRNA region
GIMAP8	Mature miRNA region
SUN2	Mature miRNA region
MCM2	Mature miRNA region
CNTNAP3B	Mature miRNA region
LONRF1	Mature miRNA region
HSPB8	Mature miRNA region
TM9SF4	Mature miRNA region
CTDNEP1	Mature miRNA region
GNB2L1	Mature miRNA region
CABIN1	Mature miRNA region
BAG6	Mature miRNA region
MRPS26	Mature miRNA region
CSDE1	Mature miRNA region
BIRC5	Mature miRNA region
EHHADH	Mature miRNA region
EEF1A1	Mature miRNA region
ZBTB7B	Mature miRNA region
XYLT2	Mature miRNA region
RPL36A	Mature miRNA region
EDC4	Mature miRNA region
PRPF6	Mature miRNA region
IRAK1	Mature miRNA region
SGPL1	Mature miRNA region
ZBTB4	Mature miRNA region
KARS	Mature miRNA region
SCAMP1	Mature miRNA region
TUBB4B	Mature miRNA region
C1orf43	Mature miRNA region
ITPR3	Mature miRNA region
TBX3	Mature miRNA region
TUBB4A	Mature miRNA region
IDH1	Mature miRNA region
MBTPS2	Mature miRNA region
CCDC47	Mature miRNA region
PPIA	Mature miRNA region
C12orf29	Mature miRNA region
AGPAT6	Mature miRNA region
RPA2	Mature miRNA region
RPL35	Mature miRNA region
CYB5B	Mature miRNA region
ABHD14B	Mature miRNA region
PFKL	Mature miRNA region
AKIP1	Mature miRNA region
CENPF	Mature miRNA region
DUT	Mature miRNA region
CKAP4	Mature miRNA region
GALNT2	Mature miRNA region
ACTG1	Mature miRNA region
JUNB	Mature miRNA region
ATP6AP2	Mature miRNA region
KIAA1644	Mature miRNA region
AP2M1	Mature miRNA region
PKN3	Mature miRNA region
MAP3K7	Mature miRNA region
SLC1A5	Mature miRNA region
SACS	Mature miRNA region
PIM2	Mature miRNA region
ZNF395	Mature miRNA region
HIST4H4	Mature miRNA region
PIK3R4	Mature miRNA region
NCKIPSD	Mature miRNA region
ADAR	Mature miRNA region
NOP2	Mature miRNA region
CMTR1	Mature miRNA region
EXOC8	Mature miRNA region
RCC2	Mature miRNA region
GCN1L1	Mature miRNA region
NDRG3	Mature miRNA region
HSPA1B	Mature miRNA region
CHD3	Mature miRNA region
CTNNB1	Mature miRNA region
ATP2A2	Mature miRNA region
HSPA9	Mature miRNA region
NDUFA5	Mature miRNA region
RABGGTB	Mature miRNA region
KIAA1671	Mature miRNA region
PBRM1	Mature miRNA region
UBE2Q1	Mature miRNA region
ERCC2	Mature miRNA region
ASCC3	Mature miRNA region
TMEM25	Mature miRNA region
ASTL	Mature miRNA region
ATP6AP1	Mature miRNA region
LIMS1	Mature miRNA region
EPB41L1	Mature miRNA region
EIF3C	Mature miRNA region
AAMP	Mature miRNA region
MUC1	Mature miRNA region
CEBPA	Mature miRNA region
TBX18	Mature miRNA region
TOP2A	Mature miRNA region
UBE2A	Mature miRNA region
AVL9	Mature miRNA region
RBM10	Mature miRNA region
PAF1	Mature miRNA region
BLMH	Mature miRNA region
KDM2A	Mature miRNA region
ZDHHC4	Mature miRNA region
USP24	Mature miRNA region
ZBTB40	Mature miRNA region
CPSF3L	Mature miRNA region
PSMB2	Mature miRNA region
SCAMP4	Mature miRNA region
AKR1B1	Mature miRNA region
ZNF629	Mature miRNA region
HSP90AA1	Mature miRNA region
RABL6	Mature miRNA region
NDUFV3	Mature miRNA region
KIF4B	Mature miRNA region
FAM168B	Mature miRNA region
IPO7	Mature miRNA region
RBM27	Mature miRNA region
PIP5K1A	Mature miRNA region
QPRT	Mature miRNA region
FAM3C	Mature miRNA region
ALDH1B1	Mature miRNA region
WDR1	Mature miRNA region
UBE2G1	Mature miRNA region
ACIN1	Mature miRNA region
IGF1R	Mature miRNA region
UQCC1	Mature miRNA region
PANK3	Mature miRNA region
LEPREL4	Mature miRNA region
SLC25A39	Mature miRNA region

Extended variants
information (count: 515 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529255560	chr3:47887111-47887112	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568710065	chr3:47887139-47887140	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113176570	chr3:47887141-47887142	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529468329	chr3:47887160-47887161	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550722288	chr3:47887164-47887165	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376062811	chr3:47887180-47887181	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs569099891	chr3:47887209-47887210	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs367847892	chr3:47887222-47887223	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs138599337	chr3:47887228-47887229	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201596740	chr3:47887237-47887238	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563983650	chr3:47887248-47887249	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs144616702	chr3:47887303-47887304	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566786160	chr3:47887316-47887317	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs200777275	chr3:47887329-47887330	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs370881771	chr3:47887342-47887343	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373090001	chr3:47887351-47887352	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs200116835	chr3:47887374-47887375	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs377728207	chr3:47887391-47887392	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542138275	chr3:47887406-47887407	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548954335	chr3:47887422-47887423	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs180914153	chr3:47887441-47887442	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575490259	chr3:47887471-47887472	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs545956398	chr3:47887540-47887541	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79691392	chr3:47887577-47887578	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs373907126	chr3:47887589-47887590	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377228431	chr3:47887680-47887681	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
27	rs369779602	chr3:47887690-47887691	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs374425976	chr3:47887691-47887692	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs572771845	chr3:47887768-47887769	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs142456187	chr3:47887774-47887775	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs377684722	chr3:47887795-47887796	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs142347684	chr3:47887809-47887810	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs71328953	chr3:47887817-47887818	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs374087015	chr3:47887829-47887830	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs143284982	chr3:47887833-47887834	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs150659659	chr3:47887849-47887850	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
37	rs562253562	chr3:47887860-47887861	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs377122162	chr3:47887897-47887898	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs370277389	chr3:47887910-47887911	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs368673690	chr3:47887914-47887915	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs529583557	chr3:47887957-47887958	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
42	rs372358598	chr3:47887960-47887961	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
43	rs550857641	chr3:47887966-47887967	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
44	rs374535053	chr3:47888000-47888001	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
45	rs202099313	chr3:47888009-47888010	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs533331394	chr3:47888056-47888057	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
47	rs201095898	chr3:47888077-47888078	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
48	rs372319935	chr3:47888155-47888156	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs140242193	chr3:47888180-47888181	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
50	rs370088500	chr3:47888218-47888219	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47899200	Strong transcription	Fetal Brain Female	brain
2	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:47868000-47903000	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:47868200-47892200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:47868200-47902400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:47868400-47891000	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:47868400-47891200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:47868400-47891400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:47868400-47899200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr3:47868400-47901200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:47868400-47902400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:47868400-47903000	Strong transcription	Placenta	Placenta
14	chr3:47868400-47903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47868400-47903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
18	chr3:47868600-47893600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:47868600-47899000	Strong transcription	Thymus	Thymus
20	chr3:47868600-47899200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:47868600-47899200	Strong transcription	Primary T cells from cord blood	blood
22	chr3:47868600-47899400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:47868600-47901800	Strong transcription	Fetal Intestine Large	intestine
24	chr3:47868600-47902200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr3:47868600-47902600	Strong transcription	Liver	Liver
26	chr3:47868600-47902800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
28	chr3:47868800-47890400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:47868800-47894000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:47868800-47902000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:47868800-47902200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr3:47868800-47902400	Strong transcription	Osteobl	bone
33	chr3:47869000-47897400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:47869000-47897400	Strong transcription	Adipose Nuclei	Adipose
35	chr3:47869000-47897800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:47869000-47899400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:47869000-47902400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:47869200-47902200	Strong transcription	Dnd41	blood
40	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:47871200-47899200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:47871400-47892600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:47871400-47899200	Strong transcription	Fetal Thymus	thymus
44	chr3:47871600-47892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:47871600-47894200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:47871600-47899200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:47871800-47899200	Strong transcription	Gastric	stomach
48	chr3:47871800-47901600	Strong transcription	Brain Germinal Matrix	brain
49	chr3:47872000-47899400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:47872200-47899200	Strong transcription	Muscle Satellite Cultured Cells	--

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