Variant report

Variant	rs3785634
Chromosome Location	chr17:15553709-15553710
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	FOS	chr17:15553155-15553809	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553348 chr17:15553337-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
2	MYC	chr17:15553063-15553832	MCF10A-Er-Src	breast:	n/a	chr17:15553339-15553348
3	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr17:15552875-15554004	A549	lung:	n/a	chr17:15553862-15553873 chr17:15553897-15553908
5	MAX	chr17:15552823-15553915	A549	lung:	n/a	chr17:15553339-15553348
6	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
7	TCF12	chr17:15553062-15553787	ECC-1	luminal epithelium:	n/a	n/a
8	SP1	chr17:15552982-15553789	A549	lung:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
9	MXI1	chr17:15552996-15553781	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr17:15552988-15555470	A549	lung:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
11	SP1	chr17:15552919-15553939	HCT-116	colon:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
12	STAT3	chr17:15552888-15554330	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553347 chr17:15553945-15553956 chr17:15553661-15553675 chr17:15553738-15553745 chr17:15553452-15553475 chr17:15553664-15553673 chr17:15553663-15553672
13	STAT3	chr17:15553045-15553845	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553347 chr17:15553661-15553675 chr17:15553738-15553745 chr17:15553452-15553475 chr17:15553664-15553673 chr17:15553663-15553672
14	GATA2	chr17:15553059-15553809	HUVEC	blood vessel:	n/a	n/a
15	JUN	chr17:15553154-15553736	HUVEC	blood vessel:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
16	CEBPB	chr17:15553130-15554490	Hela-S3	cervix:	n/a	n/a
17	ELK4	chr17:15553027-15553799	Hela-S3	cervix:	n/a	chr17:15553328-15553339
18	STAT3	chr17:15553042-15553786	Hela-S3	cervix:	n/a	chr17:15553338-15553347 chr17:15553661-15553675 chr17:15553738-15553745 chr17:15553452-15553475 chr17:15553664-15553673 chr17:15553663-15553672
19	JUND	chr17:15552958-15553711	HCT-116	colon:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
20	TCF7L2	chr17:15553049-15553762	PANC-1	pancreas:	n/a	chr17:15553465-15553481 chr17:15553468-15553477 chr17:15553235-15553249 chr17:15553234-15553250 chr17:15553238-15553248 chr17:15553237-15553246 chr17:15553234-15553250 chr17:15553238-15553247 chr17:15553469-15553479 chr17:15553235-15553249 chr17:15553466-15553480 chr17:15553465-15553481 chr17:15553338-15553347
21	SMARCC1	chr17:15553071-15553826	Hela-S3	cervix:	n/a	chr17:15553582-15553591
22	TCF7L2	chr17:15552974-15553773	MCF-7	breast:	n/a	chr17:15553465-15553481 chr17:15553468-15553477 chr17:15553235-15553249 chr17:15553234-15553250 chr17:15553238-15553248 chr17:15553237-15553246 chr17:15553234-15553250 chr17:15553238-15553247 chr17:15553469-15553479 chr17:15553235-15553249 chr17:15553466-15553480 chr17:15553465-15553481 chr17:15553338-15553347
23	FOSL1	chr17:15552887-15553921	HCT-116	colon:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
24	NFIC	chr17:15553026-15553765	ECC-1	luminal epithelium:	n/a	n/a
25	SP1	chr17:15552854-15553894	HCT-116	colon:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
26	MYC	chr17:15553147-15553916	MCF10A-Er-Src	breast:	n/a	chr17:15553339-15553348
27	NFIC	chr17:15552980-15554475	ECC-1	luminal epithelium:	n/a	chr17:15553980-15553997 chr17:15553981-15553997
28	MAX	chr17:15552865-15553906	HCT-116	colon:	n/a	chr17:15553339-15553348
29	TBP	chr17:15553090-15553762	Hela-S3	cervix:	n/a	n/a
30	JUND	chr17:15553125-15553711	A549	lung:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
31	FOXA2	chr17:15553221-15553712	A549	lung:	n/a	n/a
32	FOS	chr17:15553047-15553911	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553348 chr17:15553337-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
33	STAT3	chr17:15552937-15553845	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553347 chr17:15553661-15553675 chr17:15553738-15553745 chr17:15553452-15553475 chr17:15553664-15553673 chr17:15553663-15553672
34	MAX	chr17:15553114-15553801	Hela-S3	cervix:	n/a	chr17:15553339-15553348
35	POLR2A	chr17:15553192-15555481	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr17:15552793-15555516	A549	lung:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15553339-15553348 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
37	JUND	chr17:15552906-15553851	HCT-116	colon:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
38	MXI1	chr17:15553449-15555638	SK-N-SH	brain:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
39	RFX5	chr17:15553010-15553906	Hela-S3	cervix:	n/a	n/a
40	GTF2F1	chr17:15553141-15553804	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr17:15553163-15555515	Hela-S3	cervix:	n/a	n/a
42	FOS	chr17:15553050-15553932	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553348 chr17:15553337-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
43	POLR2A	chr17:15553176-15553745	HUVEC	blood vessel:	n/a	n/a
44	TCF12	chr17:15552928-15553759	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr17:15552954-15553864	ECC-1	luminal epithelium:	n/a	chr17:15553339-15553348
46	SIN3AK20	chr17:15553198-15553750	A549	lung:	n/a	n/a
47	JUND	chr17:15553050-15554074	Hela-S3	cervix:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
48	MAX	chr17:15552887-15553792	HCT-116	colon:	n/a	chr17:15553339-15553348
49	MAFK	chr17:15553026-15553787	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15552019..15554730-chr17:16119203..16121978,2	MCF-7	breast:
2	chr17:15553193..15554003-chr6:27114645..27115287,2	Hela-S3	cervix:
3	chr17:15551872..15554786-chr17:16116224..16118866,3	MCF-7	breast:
4	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266261	TF binding region
ENSG00000141027	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000011295	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1476728	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16964250	0.81[CEU][hapmap]
rs4792637	1.00[CHB][hapmap]
rs4792643	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4792644	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58806844	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8066692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:15532400-15554000	Weak transcription	Ovary	ovary
3	chr17:15544400-15554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:15549200-15554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15549400-15554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:15549400-15554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:15549600-15554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:15549600-15554000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:15549600-15554000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:15549600-15554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:15549600-15554200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:15549600-15554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:15549600-15554400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:15549600-15554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:15549600-15554800	Weak transcription	GM12878-XiMat	blood
16	chr17:15550000-15554600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:15550200-15554200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr17:15551000-15554400	Active TSS	Esophagus	oesophagus
19	chr17:15551600-15554400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr17:15551600-15555000	Active TSS	Psoas Muscle	Psoas
21	chr17:15551600-15555000	Flanking Active TSS	Hela-S3	cervix
22	chr17:15551800-15554000	Enhancers	Small Intestine	intestine
23	chr17:15552000-15554200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:15552200-15554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:15552200-15555200	Active TSS	Stomach Mucosa	stomach
26	chr17:15552200-15564600	Weak transcription	HepG2	liver
27	chr17:15552400-15554000	Weak transcription	K562	blood
28	chr17:15552400-15554400	Active TSS	Right Ventricle	heart
29	chr17:15552400-15555600	Active TSS	A549	lung
30	chr17:15552400-15555600	Active TSS	HSMM	muscle
31	chr17:15552400-15555600	Active TSS	HSMMtube	muscle
32	chr17:15552800-15553800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr17:15553000-15553800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr17:15553000-15554000	Active TSS	Colonic Mucosa	Colon
35	chr17:15553000-15554600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:15553000-15554600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:15553000-15554600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:15553000-15555000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:15553000-15555000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr17:15553000-15555000	Flanking Active TSS	HMEC	breast
41	chr17:15553000-15555400	Flanking Active TSS	HUVEC	blood vessel
42	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
45	chr17:15553200-15553800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr17:15553200-15553800	Enhancers	Brain Hippocampus Middle	brain
47	chr17:15553200-15553800	Enhancers	Fetal Brain Female	brain
48	chr17:15553200-15554000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:15553200-15554000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:15553200-15554000	Enhancers	Brain Angular Gyrus	brain

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