Variant report

Variant	rs2513911
Chromosome Location	chr8:103817865-103817866
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	POLR2A	chr8:103817757-103817879	HUVEC	blood vessel:	n/a	n/a
2	STAT3	chr8:103816987-103817914	MCF10A-Er-Src	breast:	n/a	chr8:103817512-103817526 chr8:103817513-103817524 chr8:103817515-103817523
3	CTCF	chr8:103817800-103817950	GM12864	blood:	n/a	chr8:103817880-103817893
4	POLR2A	chr8:103817863-103821953	HUVEC	blood vessel:	n/a	n/a
5	REST	chr8:103817844-103821734	A549	lung:	n/a	chr8:103818998-103819011 chr8:103819824-103819837 chr8:103817937-103817950 chr8:103818819-103818832
6	MAX	chr8:103816733-103821952	HCT-116	colon:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103820199-103820210 chr8:103819611-103819618
7	POLR2A	chr8:103817849-103820244	K562	blood:	n/a	n/a
8	MXI1	chr8:103817856-103821244	SK-N-SH	brain:	n/a	chr8:103818618-103818627 chr8:103819831-103819840
9	POLR2A	chr8:103816846-103823682	IMR90	lung:	n/a	n/a
10	POLR2A	chr8:103817798-103820279	HUVEC	blood vessel:	n/a	n/a
11	TCF7L2	chr8:103816764-103817906	HCT-116	colon:	n/a	n/a
12	FOS	chr8:103817859-103820048	HUVEC	blood vessel:	n/a	chr8:103819044-103819055 chr8:103818845-103818856 chr8:103818780-103818789
13	MAX	chr8:103817826-103821215	HCT-116	colon:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103820199-103820210 chr8:103819611-103819618
14	TCF12	chr8:103816768-103817915	ECC-1	luminal epithelium:	n/a	chr8:103817268-103817275
15	MAX	chr8:103817820-103821644	A549	lung:	n/a	chr8:103818616-103818627 chr8:103819610-103819619 chr8:103818617-103818626 chr8:103818777-103818787 chr8:103819610-103819620 chr8:103819608-103819623 chr8:103818617-103818626 chr8:103818616-103818627 chr8:103818617-103818627 chr8:103819694-103819704 chr8:103819610-103819619 chr8:103818618-103818625 chr8:103820199-103820210 chr8:103819611-103819618
16	STAT3	chr8:103817018-103821047	MCF10A-Er-Src	breast:	n/a	chr8:103817512-103817526 chr8:103818804-103818816 chr8:103817513-103817524 chr8:103817515-103817523 chr8:103821012-103821020 chr8:103818779-103818791 chr8:103818516-103818524 chr8:103818033-103818041
17	STAT3	chr8:103817019-103821044	MCF10A-Er-Src	breast:	n/a	chr8:103817512-103817526 chr8:103818804-103818816 chr8:103817513-103817524 chr8:103817515-103817523 chr8:103821012-103821020 chr8:103818779-103818791 chr8:103818516-103818524 chr8:103818033-103818041
18	EP300	chr8:103817735-103821243	ECC-1	luminal epithelium:	n/a	chr8:103819902-103819918 chr8:103820211-103820227 chr8:103818809-103818825
19	EGR1	chr8:103816738-103821375	HCT-116	colon:	n/a	chr8:103817932-103817947 chr8:103818774-103818787 chr8:103816898-103816908 chr8:103817845-103817869 chr8:103818775-103818786 chr8:103819818-103819832 chr8:103818775-103818784 chr8:103817933-103817946 chr8:103818774-103818787 chr8:103818778-103818788 chr8:103817937-103817947 chr8:103818774-103818787 chr8:103818773-103818788 chr8:103818774-103818784 chr8:103818774-103818787 chr8:103818773-103818787 chr8:103818855-103818865 chr8:103819724-103819737 chr8:103818769-103818791 chr8:103817933-103817947 chr8:103818792-103818802
20	HDAC2	chr8:103817558-103821333	MCF-7	breast:	n/a	chr8:103818511-103818525
21	POLR2A	chr8:103817597-103821767	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
3	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
4	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
5	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
6	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
7	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
8	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
9	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
10	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
11	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
12	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
13	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
14	chr8:103666410..103667102-chr8:103817768..103818726,2	Hela-S3	cervix:
15	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
16	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
17	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000272037	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1019976	0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1062048	0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955293	0.89[ASW][hapmap]
rs10955294	0.87[YRI][hapmap]
rs17776569	0.81[CHB][hapmap];0.87[YRI][hapmap]
rs1802539	0.87[CHB][hapmap];0.87[YRI][hapmap]
rs1897787	0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1991928	0.95[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2247355	0.93[CHB][hapmap];0.87[YRI][hapmap]
rs2436849	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2436850	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2436851	0.85[EUR][1000 genomes]
rs2436854	0.91[CEU][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs2436856	0.87[CHB][hapmap];0.83[GIH][hapmap]
rs2436861	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513876	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513915	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513917	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2513920	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513923	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513936	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2570941	0.95[CEU][hapmap];0.87[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679745	0.87[CHB][hapmap];0.83[GIH][hapmap];0.87[YRI][hapmap]
rs2679747	0.95[CEU][hapmap];0.87[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679750	0.95[CEU][hapmap];0.87[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2679753	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2916559	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018954	0.95[CEU][hapmap];0.93[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34352733	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs581610	0.81[GIH][hapmap]
rs601088	0.81[CHB][hapmap];0.83[GIH][hapmap]
rs974758	0.91[AMR][1000 genomes];0.91[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2513911	KB-1732A1.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103810000-103818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:103814200-103818000	Enhancers	HepG2	liver
4	chr8:103814800-103818400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
6	chr8:103815800-103818200	Enhancers	Liver	Liver
7	chr8:103816000-103818000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:103816000-103818400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:103816000-103818400	Enhancers	Fetal Intestine Large	intestine
10	chr8:103816000-103818400	Enhancers	Placenta	Placenta
11	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:103816200-103818000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:103816200-103818000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:103816200-103818200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:103816200-103818200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:103816200-103818200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:103816200-103818200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:103816200-103818200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:103816200-103818200	Enhancers	Fetal Intestine Small	intestine
20	chr8:103816200-103818200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:103816200-103818400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:103816200-103818400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103816200-103818400	Enhancers	Fetal Thymus	thymus
24	chr8:103816200-103818400	Enhancers	Lung	lung
25	chr8:103816400-103818000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:103816400-103818000	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:103816400-103818000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:103816400-103818000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:103816400-103818000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:103816400-103818200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:103816400-103818200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:103816400-103818200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:103816400-103818200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:103816400-103818200	Enhancers	Dnd41	blood
35	chr8:103816400-103818400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:103816400-103818600	Enhancers	Small Intestine	intestine
37	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
38	chr8:103816600-103818200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:103816600-103818200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:103816600-103818200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr8:103816600-103818200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:103816600-103818600	Enhancers	Fetal Lung	lung
43	chr8:103816800-103818000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:103816800-103818000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr8:103816800-103818000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:103816800-103818000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:103816800-103818000	Enhancers	Adipose Nuclei	Adipose
48	chr8:103816800-103818000	Enhancers	Colonic Mucosa	Colon
49	chr8:103816800-103818000	Enhancers	Colon Smooth Muscle	Colon
50	chr8:103816800-103818000	Enhancers	Rectal Mucosa Donor 29	rectum

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