Variant report

Variant	rs6797962
Chromosome Location	chr3:156877985-156877986
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr3:156877640-156878317	K562	blood:	n/a	n/a
2	NR3C1	chr3:156877715-156878249	A549	lung:	n/a	n/a
3	ZBTB33	chr3:156877746-156878402	A549	lung:	n/a	n/a
4	POLR2A	chr3:156876714-156879143	HUVEC	blood vessel:	n/a	n/a
5	SPI1	chr3:156877759-156878816	HL-60	blood:	n/a	chr3:156878527-156878536 chr3:156878525-156878538 chr3:156878524-156878537
6	CEBPB	chr3:156877748-156878862	IMR90	lung:	n/a	n/a
7	POLR2A	chr3:156875169-156879293	MCF10A-Er-Src	breast:	n/a	n/a
8	IRF1	chr3:156877766-156878762	K562	blood:	n/a	n/a
9	TCF12	chr3:156876865-156878956	A549	lung:	n/a	n/a
10	POLR2A	chr3:156876034-156879187	GM12892	blood:	n/a	n/a
11	FOXP2	chr3:156877714-156878218	PFSK-1	brain:	n/a	n/a
12	ZNF143	chr3:156877533-156878648	H1-hESC	embryonic stem cell:	n/a	n/a
13	STAT3	chr3:156877802-156879280	Hela-S3	cervix:	n/a	n/a
14	TBP	chr3:156877008-156879123	H1-hESC	embryonic stem cell:	n/a	chr3:156878569-156878580
15	MTA3	chr3:156876897-156879216	GM12878	blood:	n/a	n/a
16	TAF1	chr3:156877022-156878719	SK-N-SH	brain:	n/a	n/a
17	EP300	chr3:156877628-156878848	A549	lung:	n/a	n/a
18	YY1	chr3:156876982-156878314	ECC-1	luminal epithelium:	n/a	chr3:156877370-156877379 chr3:156877323-156877332 chr3:156878064-156878073 chr3:156877327-156877349 chr3:156878059-156878073 chr3:156877318-156877332 chr3:156878065-156878079 chr3:156877327-156877337 chr3:156877367-156877376 chr3:156877315-156877329 chr3:156877365-156877379 chr3:156877330-156877338 chr3:156877370-156877381 chr3:156877367-156877378 chr3:156877327-156877337
19	FOS	chr3:156877932-156878159	MCF10A-Er-Src	breast:	n/a	chr3:156878014-156878023
20	TCF3	chr3:156877732-156878286	GM12878	blood:	n/a	n/a
21	TEAD4	chr3:156877749-156878525	ECC-1	luminal epithelium:	n/a	n/a
22	YY1	chr3:156876764-156878590	SK-N-SH	brain:	n/a	chr3:156877370-156877379 chr3:156877323-156877332 chr3:156878064-156878073 chr3:156877327-156877349 chr3:156878059-156878073 chr3:156877318-156877332 chr3:156878065-156878079 chr3:156877327-156877337 chr3:156877367-156877376 chr3:156877315-156877329 chr3:156877365-156877379 chr3:156877330-156877338 chr3:156877370-156877381 chr3:156877367-156877378 chr3:156877327-156877337
23	MYC	chr3:156877801-156878327	GM12878	blood:	n/a	chr3:156877996-156878005
24	REST	chr3:156877746-156878307	PFSK-1	brain:	n/a	n/a
25	ETS1	chr3:156877550-156878612	A549	lung:	n/a	chr3:156878002-156878013 chr3:156878001-156878016
26	POLR2A	chr3:156877099-156878944	GM18526	blood:	n/a	n/a
27	POU2F2	chr3:156877398-156878910	GM12878	blood:	n/a	n/a
28	STAT3	chr3:156877826-156878284	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:156877574-156878864	U87	brain:	n/a	n/a
30	TAF1	chr3:156877705-156878265	SK-N-SH	brain:	n/a	n/a
31	GABPA	chr3:156877716-156878321	Hela-S3	cervix:	n/a	n/a
32	MBD4	chr3:156877645-156878746	HepG2	liver:	n/a	n/a
33	SP1	chr3:156877714-156878308	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr3:156877720-156878249	SK-N-SH	brain:	n/a	n/a
35	PAX5	chr3:156877687-156878377	GM12892	blood:	n/a	n/a
36	BCLAF1	chr3:156877622-156878395	K562	blood:	n/a	chr3:156878028-156878041 chr3:156878027-156878040
37	CBX3	chr3:156877758-156878290	K562	blood:	n/a	n/a
38	POLR2A	chr3:156877455-156879114	HUVEC	blood vessel:	n/a	n/a
39	NFIC	chr3:156877665-156879016	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:156877541-156878370	A549	lung:	n/a	n/a
41	EP300	chr3:156877597-156878839	HepG2	liver:	n/a	n/a
42	POLR2A	chr3:156877184-156878926	HepG2	liver:	n/a	n/a
43	REST	chr3:156877453-156878355	U87	brain:	n/a	chr3:156877529-156877542
44	POLR2A	chr3:156876806-156878978	GM12891	blood:	n/a	n/a
45	CEBPB	chr3:156877737-156878856	ECC-1	luminal epithelium:	n/a	n/a
46	TCF7L2	chr3:156877225-156878701	HCT-116	colon:	n/a	chr3:156878378-156878388
47	RAD21	chr3:156877893-156878050	K562	blood:	n/a	n/a
48	TAF1	chr3:156877626-156878663	K562	blood:	n/a	n/a
49	MAFK	chr3:156877828-156878713	K562	blood:	n/a	n/a
50	EP300	chr3:156877700-156878321	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:156877271..156878729-chr3:156891908..156893288,13	MCF-7	breast:
2	chr16:2204892..2205520-chr3:156877723..156878580,2	NB4	blood:
3	chr17:41465183..41465702-chr3:156877931..156878561,2	Hela-S3	cervix:
4	chr3:156877775..156878552-chr3:167813492..167814409,3	Hela-S3	cervix:
5	chr12:96793421..96794069-chr3:156877874..156878607,2	Hela-S3	cervix:
6	chr19:47615631..47616867-chr3:156877843..156878906,3	Hela-S3	cervix:
7	chr17:26925921..26926595-chr3:156877518..156878198,2	Hela-S3	cervix:
8	chr3:156799577..156801238-chr3:156877640..156879746,2	K562	blood:
9	chr3:156877450..156878143-chr6:26124036..26124672,2	Hela-S3	cervix:
10	chr19:18391567..18392492-chr3:156877711..156878415,2	HCT-116	colon:
11	chr2:157188753..157189751-chr3:156877871..156878627,2	NB4	blood:
12	chr3:156270417..156272669-chr3:156876892..156879496,3	MCF-7	breast:
13	chr12:52445120..52446136-chr3:156877833..156878965,3	Hela-S3	cervix:
14	chr3:156877504..156878535-chr4:2010640..2011564,3	Hela-S3	cervix:
15	chr2:96874070..96874653-chr3:156877633..156878329,3	Hela-S3	cervix:
16	chr19:46195663..46196345-chr3:156877465..156878400,2	Hela-S3	cervix:
17	chr10:75006641..75007510-chr3:156877644..156878382,2	NB4	blood:
18	chr3:156877523..156878545-chr3:156892549..156893305,3	K562	blood:
19	chr3:156877528..156878270-chrX:47441431..47441972,2	Hela-S3	cervix:
20	chr3:156877508..156878255-chr6:107780540..107781376,2	NB4	blood:
21	chr10:89101853..89102640-chr3:156877460..156878212,2	Hela-S3	cervix:
22	chr16:89894754..89895427-chr3:156877779..156878582,2	Hela-S3	cervix:
23	chr3:156877577..156878787-chr3:156892042..156894243,14	HCT-116	colon:
24	chr3:156806442..156808690-chr3:156876399..156878751,3	K562	blood:
25	chr3:156533151..156536166-chr3:156876536..156878958,4	MCF-7	breast:
26	chr2:176032803..176033723-chr3:156877641..156878349,2	Hela-S3	cervix:
27	chr3:156877524..156878365-chr7:135661681..135662484,2	Hela-S3	cervix:
28	chr1:37939661..37940466-chr3:156877727..156878581,2	Hela-S3	cervix:
29	chr3:156876906..156878652-chr5:112849281..112850980,2	MCF-7	breast:
30	chr3:156390967..156393612-chr3:156877452..156879722,5	K562	blood:
31	chr3:156877426..156878618-chr5:7868821..7869708,4	Hela-S3	cervix:
32	chr18:72264398..72265408-chr3:156877651..156878831,3	Hela-S3	cervix:
33	chr12:13068284..13069071-chr3:156877685..156878262,2	Hela-S3	cervix:
34	chr3:156877563..156878528-chr3:156892084..156893407,12	NB4	blood:
35	chr20:47537882..47538727-chr3:156877527..156878360,2	Hela-S3	cervix:
36	chr3:156533566..156537799-chr3:156875553..156879495,5	MCF-7	breast:
37	chr19:47291369..47292171-chr3:156877627..156878193,2	NB4	blood:
38	chr1:228353258..228353860-chr3:156877703..156878327,2	Hela-S3	cervix:
39	chr11:67210395..67211138-chr3:156877805..156878549,2	Hela-S3	cervix:
40	chr3:156270403..156273229-chr3:156876136..156878579,3	K562	blood:
41	chr13:80915047..80915576-chr3:156877865..156878628,2	Hela-S3	cervix:
42	chr12:120730416..120731065-chr3:156877673..156878252,2	Hela-S3	cervix:
43	chr20:37063493..37064109-chr3:156877731..156878391,2	Hela-S3	cervix:
44	chr3:156877915..156878585-chr9:37784803..37785347,2	Hela-S3	cervix:
45	chr14:39639208..39640155-chr3:156877534..156878253,2	Hela-S3	cervix:
46	chr3:156877828..156878390-chr5:132387411..132388311,2	Hela-S3	cervix:
47	chr3:156877079..156878844-chr3:156892396..156893424,14	MCF-7	breast:
48	chr3:156391251..156395598-chr3:156875832..156879722,8	K562	blood:
49	chr17:63051801..63052495-chr3:156877897..156878519,2	Hela-S3	cervix:
50	chr3:156877637..156878237-chr5:139487145..139488017,2	HCT-116	colon:

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000241770	TF binding region
ENSG00000215421	Chromatin interaction
ENSG00000135111	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000122642	Chromatin interaction
ENSG00000207817	Chromatin interaction
ENSG00000120063	Chromatin interaction
ENSG00000236756	Chromatin interaction
ENSG00000115966	Chromatin interaction
ENSG00000068354	Chromatin interaction
ENSG00000105281	Chromatin interaction
ENSG00000264247	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000204991	Chromatin interaction
ENSG00000059758	Chromatin interaction
ENSG00000124275	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000170606	Chromatin interaction
ENSG00000241544	Chromatin interaction
ENSG00000243926	Chromatin interaction
ENSG00000151292	Chromatin interaction
ENSG00000227543	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000164494	Chromatin interaction
ENSG00000222675	Chromatin interaction
ENSG00000197766	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000102265	Chromatin interaction
ENSG00000162607	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000125743	Chromatin interaction
ENSG00000223482	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000185129	Chromatin interaction
ENSG00000137203	Chromatin interaction
ENSG00000188846	Chromatin interaction
ENSG00000136158	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000124279	Chromatin interaction
ENSG00000245146	Chromatin interaction
ENSG00000185049	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000153234	Chromatin interaction
ENSG00000124198	Chromatin interaction
ENSG00000203711	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000164404	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000163659	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000076382	Chromatin interaction
ENSG00000241933	Chromatin interaction
ENSG00000173905	Chromatin interaction
ENSG00000108256	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000105887	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000129187	Chromatin interaction
ENSG00000248278	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000047188	Chromatin interaction
ENSG00000011478	Chromatin interaction
ENSG00000266962	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000196756	Chromatin interaction
ENSG00000241135	Chromatin interaction
ENSG00000197415	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000107371	Chromatin interaction
ENSG00000224914	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16826938	1.00[MEX][hapmap]
rs6441120	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6776668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156871800-156879200	Active TSS	Right Ventricle	heart
2	chr3:156872000-156878600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:156872200-156879000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
4	chr3:156872400-156879200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:156874800-156879000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:156875000-156879000	Active TSS	Psoas Muscle	Psoas
7	chr3:156875400-156878800	Active TSS	Ovary	ovary
8	chr3:156875800-156879000	Active TSS	Left Ventricle	heart
9	chr3:156876000-156878400	Active TSS	Fetal Brain Female	brain
10	chr3:156876000-156878800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:156876200-156879000	Active TSS	Small Intestine	intestine
12	chr3:156876400-156878800	Active TSS	Fetal Intestine Small	intestine
13	chr3:156876400-156878800	Active TSS	Stomach Mucosa	stomach
14	chr3:156876400-156879000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:156876600-156878000	Active TSS	Colonic Mucosa	Colon
16	chr3:156876600-156878600	Active TSS	Lung	lung
17	chr3:156876600-156878600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr3:156876600-156878800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:156876600-156878800	Bivalent/Poised TSS	HepG2	liver
20	chr3:156876600-156879000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:156876600-156879000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:156876600-156879000	Active TSS	Fetal Brain Male	brain
23	chr3:156876600-156879200	Active TSS	Fetal Muscle Trunk	muscle
24	chr3:156876800-156878200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:156876800-156878200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr3:156876800-156878200	Active TSS	HUVEC	blood vessel
27	chr3:156876800-156878400	Active TSS	Fetal Thymus	thymus
28	chr3:156876800-156878600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:156876800-156878600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:156876800-156878600	Active TSS	Adipose Nuclei	Adipose
31	chr3:156876800-156878600	Active TSS	Fetal Muscle Leg	muscle
32	chr3:156876800-156878800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:156876800-156878800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr3:156876800-156878800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:156876800-156878800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:156876800-156878800	Active TSS	Brain Angular Gyrus	brain
37	chr3:156876800-156878800	Active TSS	Brain Hippocampus Middle	brain
38	chr3:156876800-156878800	Active TSS	Fetal Intestine Large	intestine
39	chr3:156876800-156878800	Active TSS	Fetal Stomach	stomach
40	chr3:156876800-156878800	Active TSS	Stomach Smooth Muscle	stomach
41	chr3:156876800-156878800	Active TSS	Thymus	Thymus
42	chr3:156876800-156878800	Active TSS	NHLF	lung
43	chr3:156876800-156879000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr3:156876800-156879200	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:156877000-156878000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:156877000-156878200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:156877000-156878200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr3:156877000-156878200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:156877000-156878200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr3:156877000-156878200	Active TSS	Primary T helper cells fromperipheralblood	blood

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