Variant report

Variant	rs8080029
Chromosome Location	chr17:15553116-15553117
allele	A/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	MYC	chr17:15553063-15553832	MCF10A-Er-Src	breast:	n/a	chr17:15553339-15553348
2	GABPA	chr17:15552965-15553657	A549	lung:	n/a	n/a
3	GATA3	chr17:15552875-15554004	A549	lung:	n/a	chr17:15553862-15553873 chr17:15553897-15553908
4	MAX	chr17:15552823-15553915	A549	lung:	n/a	chr17:15553339-15553348
5	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
6	TCF12	chr17:15553062-15553787	ECC-1	luminal epithelium:	n/a	n/a
7	SP1	chr17:15552982-15553789	A549	lung:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
8	MAX	chr17:15553015-15553644	ECC-1	luminal epithelium:	n/a	chr17:15553339-15553348
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	FOSL2	chr17:15553115-15553628	MCF-7	breast:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
12	EP300	chr17:15553107-15553697	Hela-S3	cervix:	n/a	chr17:15553339-15553348
13	SP1	chr17:15552919-15553939	HCT-116	colon:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
14	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
15	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
16	FOS	chr17:15553020-15553677	HUVEC	blood vessel:	n/a	chr17:15553338-15553348 chr17:15553337-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
17	TCF7L2	chr17:15553024-15553605	Hela-S3	cervix:	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
18	GATA2	chr17:15553059-15553809	HUVEC	blood vessel:	n/a	n/a
19	ELK4	chr17:15553027-15553799	Hela-S3	cervix:	n/a	chr17:15553328-15553339
20	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
21	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
22	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
23	SMARCC1	chr17:15553071-15553826	Hela-S3	cervix:	n/a	chr17:15553582-15553591
24	RCOR1	chr17:15553021-15553665	Hela-S3	cervix:	n/a	n/a
25	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
26	TCF7L2	chr17:15553039-15553663	HCT-116	colon:	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
27	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
28	NFIC	chr17:15553026-15553765	ECC-1	luminal epithelium:	n/a	n/a
29	SP1	chr17:15552854-15553894	HCT-116	colon:	n/a	chr17:15553033-15553046 chr17:15553418-15553432
30	POLR2A	chr17:15553091-15553558	Hela-S3	cervix:	n/a	n/a
31	NFIC	chr17:15552980-15554475	ECC-1	luminal epithelium:	n/a	chr17:15553980-15553997 chr17:15553981-15553997
32	STAT3	chr17:15552944-15553655	MCF10A-Er-Src	breast:	n/a	chr17:15553338-15553347 chr17:15553452-15553475
33	MAX	chr17:15552865-15553906	HCT-116	colon:	n/a	chr17:15553339-15553348
34	TBP	chr17:15553090-15553762	Hela-S3	cervix:	n/a	n/a
35	TCF7L2	chr17:15552934-15553672	Hela-S3	cervix:	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
36	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
37	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
38	MAX	chr17:15553114-15553801	Hela-S3	cervix:	n/a	chr17:15553339-15553348
39	SMC3	chr17:15553096-15553646	Hela-S3	cervix:	n/a	n/a
40	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
41	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
42	FOSL1	chr17:15552997-15553666	HCT-116	colon:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
43	RFX5	chr17:15553010-15553906	Hela-S3	cervix:	n/a	n/a
44	EP300	chr17:15553060-15553612	ECC-1	luminal epithelium:	n/a	chr17:15553339-15553348
45	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
46	CHD2	chr17:15553105-15553524	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr17:15552928-15553759	ECC-1	luminal epithelium:	n/a	n/a
48	EP300	chr17:15552954-15553864	ECC-1	luminal epithelium:	n/a	chr17:15553339-15553348
49	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
50	POLR2A	chr17:15553053-15553644	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15552019..15554730-chr17:16119203..16121978,2	MCF-7	breast:
2	chr17:15551872..15554786-chr17:16116224..16118866,3	MCF-7	breast:

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1810410	1.00[EUR][1000 genomes]
rs2324041	1.00[EUR][1000 genomes]
rs4791644	1.00[EUR][1000 genomes]
rs4792684	1.00[EUR][1000 genomes]
rs7207037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7207954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7216189	1.00[AMR][1000 genomes]
rs7217399	1.00[EUR][1000 genomes]
rs7223186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8064560	0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8075651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081030	0.93[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8081063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907205	1.00[EUR][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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15529600-15553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:15530200-15553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:15530400-15553200	Weak transcription	Spleen	Spleen
4	chr17:15531800-15553600	Weak transcription	Fetal Kidney	kidney
5	chr17:15532400-15554000	Weak transcription	Ovary	ovary
6	chr17:15534000-15553200	Weak transcription	Fetal Brain Female	brain
7	chr17:15534000-15553600	Weak transcription	Liver	Liver
8	chr17:15544400-15554200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:15544800-15553200	Weak transcription	Brain Angular Gyrus	brain
10	chr17:15549200-15553400	Weak transcription	Pancreas	Pancrea
11	chr17:15549200-15554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:15549400-15554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:15549400-15554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:15549600-15553200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:15549600-15553200	Weak transcription	Fetal Lung	lung
16	chr17:15549600-15553200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:15549600-15553400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:15549600-15553400	Weak transcription	Brain Anterior Caudate	brain
19	chr17:15549600-15553400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:15549600-15553600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:15549600-15554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:15549600-15554000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:15549600-15554000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:15549600-15554200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:15549600-15554200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr17:15549600-15554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:15549600-15554400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:15549600-15554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:15549600-15554800	Weak transcription	GM12878-XiMat	blood
30	chr17:15550000-15554600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr17:15550200-15553200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr17:15550200-15554200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:15551000-15554400	Active TSS	Esophagus	oesophagus
34	chr17:15551600-15553200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr17:15551600-15553600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr17:15551600-15554400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr17:15551600-15555000	Active TSS	Psoas Muscle	Psoas
38	chr17:15551600-15555000	Flanking Active TSS	Hela-S3	cervix
39	chr17:15551800-15553200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr17:15551800-15554000	Enhancers	Small Intestine	intestine
41	chr17:15552000-15553200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:15552000-15553200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr17:15552000-15553600	Weak transcription	Fetal Thymus	thymus
44	chr17:15552000-15554200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:15552200-15553200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:15552200-15553200	Weak transcription	Aorta	Aorta
47	chr17:15552200-15553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:15552200-15554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:15552200-15555200	Active TSS	Stomach Mucosa	stomach
50	chr17:15552200-15564600	Weak transcription	HepG2	liver

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