Variant report

Variant	rs12114813
Chromosome Location	chr8:103403007-103403008
allele	A/C
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10090707	1.00[CHB][hapmap]
rs10091086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10094942	0.83[ASN][1000 genomes]
rs10099641	1.00[CHB][hapmap]
rs10102559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10108510	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10112713	1.00[CHB][hapmap]
rs10481100	1.00[CHB][hapmap]
rs10481101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12335330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707772	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs13258207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13267556	1.00[CHB][hapmap]
rs2168689	1.00[CHB][hapmap]
rs28368586	1.00[ASN][1000 genomes]
rs28421590	1.00[CHB][hapmap]
rs28491719	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28658545	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925778	1.00[CHB][hapmap]
rs2925783	1.00[CHB][hapmap]
rs2925784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2925785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925787	1.00[CHB][hapmap]
rs2925791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2978426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2978432	1.00[CHB][hapmap]
rs3018507	1.00[CHB][hapmap]
rs3018532	1.00[CEU][hapmap]
rs3018533	1.00[CEU][hapmap]
rs3018536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3018537	1.00[CHB][hapmap]
rs3018539	1.00[CEU][hapmap]
rs3018540	1.00[ASN][1000 genomes]
rs3018541	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3018543	1.00[CHB][hapmap]
rs7840202	1.00[CHB][hapmap]
rs9649999	1.00[CHB][hapmap]

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:121 , 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	chr8:103396800-103407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:103397000-103413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:103397200-103406800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:103397200-103406800	Weak transcription	HMEC	breast
32	chr8:103397200-103408000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:103397400-103403800	Weak transcription	Ovary	ovary
34	chr8:103397400-103407000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:103397400-103420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:103397600-103403400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:103397800-103403600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:103397800-103406800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:103397800-103408400	Weak transcription	Fetal Brain Female	brain
40	chr8:103398400-103403200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:103398400-103403200	Weak transcription	Liver	Liver
42	chr8:103398600-103403400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:103398600-103420800	Weak transcription	Esophagus	oesophagus
44	chr8:103398800-103405600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:103399800-103408200	Weak transcription	Psoas Muscle	Psoas
46	chr8:103400000-103405000	Weak transcription	Left Ventricle	heart
47	chr8:103400000-103408000	Weak transcription	Fetal Intestine Small	intestine
48	chr8:103400200-103403600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:103400400-103403400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:103400400-103407800	Weak transcription	A549	lung

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