Variant report

Variant	rs9692996
Chromosome Location	chr8:119268512-119268513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11562789	1.00[CEU][hapmap]
rs11562791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370867	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7817162	1.00[CEU][hapmap]
rs7846380	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs9694918	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
2	chr8:119236600-119269200	Weak transcription	GM12878-XiMat	blood
3	chr8:119245200-119269800	Weak transcription	Aorta	Aorta
4	chr8:119258800-119269200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:119259400-119268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:119259400-119269200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:119261000-119269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:119262400-119269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:119265200-119269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:119265200-119271000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:119265400-119268600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:119266400-119268600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:119266600-119275800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:119266800-119269800	Weak transcription	Left Ventricle	heart
15	chr8:119267000-119269000	Weak transcription	Fetal Lung	lung
16	chr8:119267000-119269200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:119267000-119269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:119267000-119277600	Weak transcription	Lung	lung
19	chr8:119267200-119268600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:119267200-119268600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119267200-119269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:119267200-119269600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:119267200-119269600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:119267200-119270200	Weak transcription	NHEK	skin
25	chr8:119267400-119268800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:119267400-119269200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:119267400-119269200	Weak transcription	HMEC	breast
28	chr8:119267400-119270200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:119268400-119271800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:119268400-119271800	Enhancers	NHDF-Ad	bronchial

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