Variant report

Variant	rs7829697
Chromosome Location	chr8:11353579-11353580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11997711	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2169889	1.00[GIH][hapmap]
rs2245030	1.00[CEU][hapmap]
rs2245126	1.00[CEU][hapmap]
rs2249275	1.00[CEU][hapmap]
rs2252386	1.00[CEU][hapmap]
rs2264304	1.00[CEU][hapmap]
rs2264305	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2264869	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2618439	1.00[CEU][hapmap]
rs2618442	1.00[CEU][hapmap]
rs2729937	1.00[CEU][hapmap]
rs756039	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs899363	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11349600-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:11349800-11354000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:11350400-11354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:11350400-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:11350600-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:11350800-11353800	Weak transcription	NHDF-Ad	bronchial
11	chr8:11351000-11354800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:11352000-11353800	Active TSS	GM12878-XiMat	blood
13	chr8:11352200-11353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:11352200-11354800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:11352200-11360400	Weak transcription	Spleen	Spleen
16	chr8:11352400-11354800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:11352600-11353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:11352600-11353800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:11352600-11354800	Enhancers	Osteobl	bone
20	chr8:11352600-11356200	Flanking Active TSS	Dnd41	blood
21	chr8:11352800-11354000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:11352800-11354600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
23	chr8:11352800-11357600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:11353000-11354400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:11353000-11354400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:11353200-11361000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:11353400-11354000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:11353400-11354400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:11353400-11354800	Enhancers	NH-A	brain
30	chr8:11353400-11357200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
31	chr8:11353400-11367200	Enhancers	Fetal Thymus	thymus

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