Variant report

Variant	rs3793784
Chromosome Location	chr10:50747539-50747540
allele	C/G
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	FOXA2	chr10:50747479-50747712	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:50746628-50747980	NB4	blood:	n/a	n/a
3	E2F6	chr10:50746910-50747929	H1-hESC	embryonic stem cell:	n/a	chr10:50747088-50747097 chr10:50747166-50747175 chr10:50747239-50747246
4	POLR2A	chr10:50746427-50747852	GM12878	blood:	n/a	n/a
5	RCOR1	chr10:50746374-50747921	K562	blood:	n/a	n/a
6	HEY1	chr10:50746625-50747834	K562	blood:	n/a	n/a
7	MAX	chr10:50746423-50747758	Hela-S3	cervix:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
8	MXI1	chr10:50746506-50747960	H1-hESC	embryonic stem cell:	n/a	chr10:50747210-50747219 chr10:50747208-50747217
9	POLR2A	chr10:50747439-50747930	K562	blood:	n/a	n/a
10	MAZ	chr10:50746412-50747971	K562	blood:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
11	MXI1	chr10:50746386-50747643	Hela-S3	cervix:	n/a	chr10:50747210-50747219 chr10:50747208-50747217
12	POLR2A	chr10:50746466-50747919	K562	blood:	n/a	n/a
13	E2F6	chr10:50747392-50747889	K562	blood:	n/a	n/a
14	MAZ	chr10:50746204-50748075	IMR90	lung:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
15	MYBL2	chr10:50746997-50747871	HepG2	liver:	n/a	chr10:50747350-50747365
16	MAX	chr10:50746750-50747800	H1-hESC	embryonic stem cell:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
17	TCF7L2	chr10:50746360-50747666	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr10:50746422-50747785	GM19099	blood:	n/a	n/a
19	CEBPB	chr10:50746453-50747715	Hela-S3	cervix:	n/a	n/a
20	SIN3AK20	chr10:50747122-50747697	PFSK-1	brain:	n/a	n/a
21	TBP	chr10:50746849-50747919	GM12878	blood:	n/a	n/a
22	TCF12	chr10:50746920-50747713	GM12878	blood:	n/a	n/a
23	MYC	chr10:50746434-50747772	K562	blood:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
24	POLR2A	chr10:50746769-50747695	Gliobla	brain:	n/a	n/a
25	MAX	chr10:50746955-50747946	HUVEC	blood vessel:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
26	RCOR1	chr10:50746830-50747901	K562	blood:	n/a	n/a
27	ZEB1	chr10:50746209-50747880	HepG2	liver:	n/a	chr10:50746832-50746839 chr10:50746799-50746806 chr10:50747577-50747588 chr10:50746831-50746840
28	POLR2A	chr10:50746173-50747868	GM12892	blood:	n/a	n/a
29	TEAD4	chr10:50746276-50747832	K562	blood:	n/a	n/a
30	POLR2A	chr10:50746380-50747822	K562	blood:	n/a	n/a
31	POLR2A	chr10:50746442-50747909	GM12891	blood:	n/a	n/a
32	HCFC1	chr10:50746422-50747954	K562	blood:	n/a	n/a
33	SIN3AK20	chr10:50746339-50748062	MCF-7	breast:	n/a	n/a
34	POLR2A	chr10:50746758-50747664	U87	brain:	n/a	n/a
35	PAX5	chr10:50746714-50747692	GM12878	blood:	n/a	chr10:50747016-50747025
36	MAX	chr10:50746221-50748034	K562	blood:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
37	POLR2A	chr10:50746513-50747944	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:50746739-50747607	GM12878	blood:	n/a	n/a
39	E2F6	chr10:50746206-50747947	K562	blood:	n/a	chr10:50747088-50747097 chr10:50747166-50747175 chr10:50747239-50747246
40	CBX3	chr10:50746353-50747911	K562	blood:	n/a	n/a
41	E2F6	chr10:50746480-50748064	H1-hESC	embryonic stem cell:	n/a	chr10:50747088-50747097 chr10:50747166-50747175 chr10:50747239-50747246
42	RAD21	chr10:50747100-50747604	IMR90	lung:	n/a	chr10:50747155-50747168
43	MAX	chr10:50746294-50747885	K562	blood:	n/a	chr10:50747207-50747222 chr10:50747570-50747579 chr10:50747209-50747218 chr10:50747207-50747220 chr10:50747210-50747219 chr10:50747208-50747219 chr10:50747205-50747220 chr10:50747207-50747220 chr10:50746562-50746570 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747209-50747219 chr10:50747208-50747218 chr10:50747207-50747220 chr10:50747208-50747218 chr10:50747208-50747217 chr10:50747207-50747220 chr10:50747208-50747219
44	KAP1	chr10:50746355-50747905	U2OS	brain:	n/a	n/a
45	FOXA2	chr10:50747421-50747865	A549	lung:	n/a	n/a
46	POLR2A	chr10:50746333-50747590	Raji	blood:	n/a	n/a
47	POLR2A	chr10:50746741-50748046	HUVEC	blood vessel:	n/a	n/a
48	STAT1	chr10:50746587-50747899	GM12878	blood:	n/a	chr10:50747371-50747378
49	PML	chr10:50746549-50747541	MCF-7	breast:	n/a	n/a
50	ELF1	chr10:50746469-50747808	GM12878	blood:	n/a	chr10:50746843-50746852 chr10:50746820-50746831 chr10:50746820-50746831 chr10:50747092-50747104

No.	Distal block	Cell Line	Cell type
1	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
2	chr10:50746990..50749930-chr10:50758500..50760326,2	MCF-7	breast:
3	chr1:19536985..19537839-chr10:50747132..50747819,2	Hela-S3	cervix:
4	chr10:50746756..50747721-chr17:40272956..40273505,2	Hela-S3	cervix:
5	chr10:50745695..50748127-chr17:56707618..56709652,2	MCF-7	breast:
6	chr10:50738435..50741425-chr10:50746279..50748741,3	MCF-7	breast:

Variant related genes	Relation type
ERCC6-PGBD3	TF binding region
PGBD3	TF binding region
ERCC6	TF binding region
ENSG00000108773	Chromatin interaction
ENSG00000225830	Chromatin interaction
ENSG00000271237	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000230424	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10776575	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10857497	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857504	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857506	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10857510	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11101144	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11101155	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11591393	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12146288	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1917821	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2177819	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2229760	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281792	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281793	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2377900	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750747	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253038	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4253160	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4253190	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4253234	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7895633	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898545	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9971208	0.92[ASN][1000 genomes]
rs9988727	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr10:50745000-50748000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:50746000-50747800	Active TSS	A549	lung
3	chr10:50746000-50748000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr10:50746000-50748000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:50746200-50747600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:50746200-50747800	Active TSS	Fetal Intestine Large	intestine
7	chr10:50746200-50748000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:50746200-50748000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr10:50746200-50748000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr10:50746200-50748000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:50746400-50747600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:50746400-50747600	Active TSS	Lung	lung
13	chr10:50746400-50747600	Active TSS	Small Intestine	intestine
14	chr10:50746400-50747800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr10:50746400-50747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:50746400-50747800	Active TSS	Brain Hippocampus Middle	brain
17	chr10:50746400-50747800	Active TSS	Colon Smooth Muscle	Colon
18	chr10:50746400-50747800	Active TSS	Fetal Intestine Small	intestine
19	chr10:50746400-50747800	Active TSS	Ovary	ovary
20	chr10:50746400-50747800	Active TSS	Right Ventricle	heart
21	chr10:50746400-50748000	Active TSS	Aorta	Aorta
22	chr10:50746400-50748000	Active TSS	Brain Substantia Nigra	brain
23	chr10:50746400-50748200	Active TSS	Brain Anterior Caudate	brain
24	chr10:50746600-50747600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:50746600-50747600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:50746600-50747600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:50746600-50747600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr10:50746600-50747600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:50746600-50747600	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr10:50746600-50747600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr10:50746600-50747600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr10:50746600-50747600	Active TSS	Brain Cingulate Gyrus	brain
33	chr10:50746600-50747600	Active TSS	Fetal Lung	lung
34	chr10:50746600-50747600	Active TSS	Fetal Stomach	stomach
35	chr10:50746600-50747600	Active TSS	Pancreas	Pancrea
36	chr10:50746600-50747600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:50746600-50747600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr10:50746600-50747600	Active TSS	Stomach Mucosa	stomach
39	chr10:50746600-50747800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr10:50746600-50747800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr10:50746600-50747800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr10:50746600-50747800	Active TSS	Brain Angular Gyrus	brain
43	chr10:50746600-50747800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:50746600-50747800	Active TSS	Esophagus	oesophagus
45	chr10:50746600-50747800	Active TSS	Fetal Brain Male	brain
46	chr10:50746600-50747800	Active TSS	Left Ventricle	heart
47	chr10:50746600-50747800	Active TSS	Rectal Smooth Muscle	rectum
48	chr10:50746600-50747800	Active TSS	Spleen	Spleen
49	chr10:50746600-50747800	Active TSS	NHLF	lung
50	chr10:50746600-50748000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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