Variant report

Variant	rs12114277
Chromosome Location	chr8:103402895-103402896
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	chr8:103402791-103403517	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:103402789-103403080	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:103402714-103403472	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103401667..103404139-chr8:103423030..103426028,2	MCF-7	breast:
2	chr8:103351917..103354522-chr8:103402313..103404781,2	K562	blood:
3	chr8:103401111..103403412-chr8:103418397..103420245,2	K562	blood:

Variant related genes	Relation type
ENSG00000238533	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10088255	0.88[CEU][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10098586	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109588	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10505028	0.82[JPT][hapmap]
rs13248227	0.87[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap]
rs13281324	0.86[CHD][hapmap];0.81[GIH][hapmap]
rs16869377	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs16869423	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2293983	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs2445948	0.84[EUR][1000 genomes]
rs2445949	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2445953	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2512408	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2512409	0.87[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2512412	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2607658	0.84[GIH][hapmap];0.87[MEX][hapmap]
rs2607659	0.83[GIH][hapmap];0.83[MEX][hapmap]
rs2607662	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2853229	0.84[GIH][hapmap];0.87[MEX][hapmap]
rs2853233	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2853238	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs3018534	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35582203	0.82[EUR][1000 genomes]
rs36027049	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736653	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs3931977	0.83[MEX][hapmap]
rs4269511	0.86[JPT][hapmap]
rs4495397	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs4609174	0.81[CHD][hapmap]
rs4617126	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734619	0.82[CHB][hapmap]
rs6468826	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987733	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001644	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7827839	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	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
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
5	chr8:103384200-103411600	Weak transcription	Lung	lung
6	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
8	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:103394600-103407200	Weak transcription	Pancreas	Pancrea
11	chr8:103394800-103403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103395000-103406800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:103395200-103406800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:103395200-103406800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:103395600-103406800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:103395600-103407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:103395800-103406800	Weak transcription	Aorta	Aorta
18	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
20	chr8:103396000-103405800	Weak transcription	Right Atrium	heart
21	chr8:103396000-103410200	Weak transcription	Brain Germinal Matrix	brain
22	chr8:103396200-103403600	Weak transcription	NH-A	brain
23	chr8:103396200-103404200	Weak transcription	Fetal Heart	heart
24	chr8:103396200-103407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:103396200-103407400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:103396200-103408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:103396200-103409600	Weak transcription	Fetal Stomach	stomach
28	chr8:103396800-103403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:103396800-103407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:103397000-103413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:103397200-103406800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:103397200-103406800	Weak transcription	HMEC	breast
33	chr8:103397200-103408000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:103397400-103403000	Weak transcription	Primary B cells from cord blood	blood
35	chr8:103397400-103403800	Weak transcription	Ovary	ovary
36	chr8:103397400-103407000	Weak transcription	Brain Anterior Caudate	brain
37	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:103397600-103403400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:103397800-103403000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:103397800-103403600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:103397800-103406800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:103397800-103408400	Weak transcription	Fetal Brain Female	brain
43	chr8:103398000-103403000	Weak transcription	Small Intestine	intestine
44	chr8:103398200-103403000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:103398400-103403200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:103398400-103403200	Weak transcription	Liver	Liver
47	chr8:103398600-103403400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
49	chr8:103398800-103405600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:103399800-103408200	Weak transcription	Psoas Muscle	Psoas

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