Variant report

Variant	rs2513910
Chromosome Location	chr8:103817106-103817107
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	RAD21	chr8:103816824-103817535	ECC-1	luminal epithelium:	n/a	n/a
2	RUNX3	chr8:103816831-103817441	GM12878	blood:	n/a	chr8:103817333-103817350
3	POLR2A	chr8:103816935-103817497	HL-60	blood:	n/a	n/a
4	ESR1	chr8:103816832-103817343	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr8:103816826-103817196	ECC-1	luminal epithelium:	n/a	n/a
6	STAT3	chr8:103816987-103817914	MCF10A-Er-Src	breast:	n/a	chr8:103817512-103817526 chr8:103817513-103817524 chr8:103817515-103817523
7	RCOR1	chr8:103816993-103817318	K562	blood:	n/a	n/a
8	SPI1	chr8:103816930-103817486	HL-60	blood:	n/a	chr8:103817254-103817267 chr8:103817213-103817226 chr8:103817134-103817147
9	TCF7L2	chr8:103816934-103817492	Hela-S3	cervix:	n/a	n/a
10	EBF1	chr8:103816855-103817418	GM12878	blood:	n/a	n/a
11	TAF1	chr8:103816734-103817214	PFSK-1	brain:	n/a	n/a
12	RUNX3	chr8:103816719-103817479	GM12878	blood:	n/a	chr8:103817333-103817350
13	NFIC	chr8:103816731-103817689	ECC-1	luminal epithelium:	n/a	chr8:103817121-103817138 chr8:103817122-103817138
14	JUND	chr8:103816828-103817374	K562	blood:	n/a	chr8:103817293-103817302
15	STAT1	chr8:103817089-103817164	GM12878	blood:	n/a	n/a
16	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
17	NFIC	chr8:103816731-103817827	ECC-1	luminal epithelium:	n/a	chr8:103817121-103817138 chr8:103817122-103817138
18	EP300	chr8:103816914-103817353	K562	blood:	n/a	n/a
19	STAT3	chr8:103817104-103817799	MCF10A-Er-Src	breast:	n/a	chr8:103817512-103817526 chr8:103817513-103817524 chr8:103817515-103817523
20	POLR2A	chr8:103816874-103817549	PANC-1	pancreas:	n/a	n/a
21	TEAD4	chr8:103817027-103817403	K562	blood:	n/a	n/a
22	FOS	chr8:103817052-103817744	MCF10A-Er-Src	breast:	n/a	chr8:103817643-103817650 chr8:103817293-103817302 chr8:103817638-103817650
23	POLR2A	chr8:103816846-103823682	IMR90	lung:	n/a	n/a
24	EP300	chr8:103816776-103817469	ECC-1	luminal epithelium:	n/a	chr8:103816786-103816800
25	TCF7L2	chr8:103816764-103817906	HCT-116	colon:	n/a	n/a
26	FOXM1	chr8:103816796-103817624	ECC-1	luminal epithelium:	n/a	n/a
27	TCF12	chr8:103816768-103817915	ECC-1	luminal epithelium:	n/a	chr8:103817268-103817275
28	TEAD4	chr8:103816839-103817500	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr8:103816918-103817262	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr8:103816706-103817745	ECC-1	luminal epithelium:	n/a	chr8:103817268-103817275
31	EP300	chr8:103816693-103817701	ECC-1	luminal epithelium:	n/a	chr8:103816786-103816800
32	MYC	chr8:103816953-103817692	MCF10A-Er-Src	breast:	n/a	n/a
33	TBL1XR1	chr8:103817040-103817353	K562	blood:	n/a	n/a
34	ESR1	chr8:103816867-103817300	ECC-1	luminal epithelium:	n/a	n/a
35	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
36	CTCF	chr8:103817080-103817230	RPTEC	kidney:	n/a	n/a
37	MYC	chr8:103816951-103817279	MCF10A-Er-Src	breast:	n/a	n/a
38	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
39	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
40	RAD21	chr8:103816860-103817286	IMR90	lung:	n/a	n/a
41	SMC3	chr8:103816892-103817281	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr8:103817070-103817445	HL-60	blood:	n/a	n/a
43	FOS	chr8:103817034-103817680	MCF10A-Er-Src	breast:	n/a	chr8:103817643-103817650 chr8:103817293-103817302 chr8:103817638-103817650
44	POLR2A	chr8:103816794-103817535	HCT-116	colon:	n/a	n/a
45	RAD21	chr8:103817011-103817294	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
2	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
3	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
4	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
5	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
6	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
7	chr8:103800634..103802209-chr8:103815630..103817648,2	K562	blood:
8	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
9	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000083307	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10808382	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1138	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1434235	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs1806299	0.90[JPT][hapmap]
rs1991927	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2117313	0.83[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164061	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2256440	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2304346	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2436844	0.84[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2436846	0.84[EUR][1000 genomes]
rs2436847	0.80[EUR][1000 genomes]
rs2436848	0.84[EUR][1000 genomes]
rs2436854	0.81[CHD][hapmap]
rs2436857	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436865	0.89[EUR][1000 genomes]
rs2436867	0.82[CHB][hapmap]
rs2513898	0.84[EUR][1000 genomes]
rs2513913	0.83[EUR][1000 genomes]
rs2513916	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2513918	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513919	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2513921	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2513922	0.88[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2513935	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2570939	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2570940	0.83[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2570942	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs2570944	0.81[EUR][1000 genomes]
rs2679741	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2679746	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679748	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679749	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs2679751	0.83[EUR][1000 genomes]
rs2679752	0.88[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs2679754	0.88[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap]
rs2679756	0.88[CEU][hapmap]
rs2679757	0.85[CEU][hapmap]
rs2679758	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2679759	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs2916558	0.83[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2916564	0.86[EUR][1000 genomes]
rs3018956	0.84[EUR][1000 genomes]
rs34655485	0.85[EUR][1000 genomes]
rs601588	0.89[JPT][hapmap]
rs667927	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs6921	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833202	0.90[JPT][hapmap]
rs892484	0.88[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap]
rs892485	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs892486	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap]
rs972142	0.88[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs974759	0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2513910	AZIN1	cis	multi-tissue	Pritchard
rs2513910	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103808000-103817200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:103810000-103818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:103814200-103818000	Enhancers	HepG2	liver
5	chr8:103814800-103818400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
7	chr8:103815800-103818200	Enhancers	Liver	Liver
8	chr8:103816000-103818000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:103816000-103818400	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:103816000-103818400	Enhancers	Fetal Intestine Large	intestine
11	chr8:103816000-103818400	Enhancers	Placenta	Placenta
12	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:103816200-103818000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:103816200-103818000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:103816200-103818200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:103816200-103818200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:103816200-103818200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:103816200-103818200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:103816200-103818200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:103816200-103818200	Enhancers	Fetal Intestine Small	intestine
21	chr8:103816200-103818200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:103816200-103818400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr8:103816200-103818400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:103816200-103818400	Enhancers	Fetal Thymus	thymus
25	chr8:103816200-103818400	Enhancers	Lung	lung
26	chr8:103816400-103817800	Enhancers	A549	lung
27	chr8:103816400-103818000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:103816400-103818000	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:103816400-103818000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103816400-103818000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:103816400-103818000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr8:103816400-103818200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:103816400-103818200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:103816400-103818200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:103816400-103818200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:103816400-103818200	Enhancers	Dnd41	blood
37	chr8:103816400-103818400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:103816400-103818600	Enhancers	Small Intestine	intestine
39	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
40	chr8:103816600-103817200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:103816600-103818200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:103816600-103818200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:103816600-103818200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr8:103816600-103818200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:103816600-103818600	Enhancers	Fetal Lung	lung
46	chr8:103816800-103817200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:103816800-103817200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:103816800-103817200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr8:103816800-103817200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:103816800-103817200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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