Variant report

Variant	rs7823796
Chromosome Location	chr8:118958883-118958884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11562704	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11562773	0.87[YRI][hapmap]
rs11993275	0.82[CHB][hapmap]
rs12543508	1.00[CHB][hapmap]
rs12548703	0.82[CHB][hapmap]
rs12549000	0.82[CHB][hapmap]
rs12549700	1.00[CHB][hapmap]
rs17430533	0.82[CHB][hapmap]
rs17450772	0.82[CHB][hapmap]
rs17503363	1.00[EUR][1000 genomes]
rs17504211	0.82[CHB][hapmap]
rs6991164	0.82[CHB][hapmap]
rs880400	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
2	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
3	chr8:118950600-118960600	Weak transcription	Ovary	ovary
4	chr8:118950800-118959200	Weak transcription	Fetal Stomach	stomach
5	chr8:118953200-118960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:118953400-118959200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:118953800-118959000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:118953800-118959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:118953800-118959000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:118953800-118959200	Weak transcription	Fetal Kidney	kidney
11	chr8:118953800-118959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:118953800-118959800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:118954000-118959600	Weak transcription	HSMM	muscle
14	chr8:118954200-118959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:118954400-118959600	Weak transcription	NHLF	lung
16	chr8:118954400-118959800	Weak transcription	HUVEC	blood vessel
17	chr8:118954600-118959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:118954600-118959800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:118954800-118962200	Weak transcription	Right Atrium	heart
20	chr8:118956400-118959200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
22	chr8:118956800-118959000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:118956800-118959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:118957400-118959000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:118957800-118959200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:118957800-118961200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:118958000-118963400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:118958200-118959000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:118958200-118959000	Enhancers	Fetal Intestine Small	intestine
30	chr8:118958200-118959800	Enhancers	Fetal Muscle Leg	muscle
31	chr8:118958400-118959000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:118958400-118959000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:118958400-118959600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:118958400-118960200	Enhancers	Stomach Mucosa	stomach
35	chr8:118958400-118960200	Flanking Active TSS	NHEK	skin
36	chr8:118958400-118961200	Enhancers	Fetal Lung	lung
37	chr8:118958600-118959000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:118958600-118959000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:118958600-118959000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:118958600-118959000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:118958600-118959000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:118958600-118959000	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:118958600-118959000	Enhancers	Fetal Thymus	thymus
44	chr8:118958600-118959000	Enhancers	Lung	lung
45	chr8:118958600-118959200	Enhancers	Left Ventricle	heart
46	chr8:118958600-118959200	Active TSS	Pancreas	Pancrea
47	chr8:118958600-118959200	Weak transcription	Osteobl	bone
48	chr8:118958600-118959400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr8:118958600-118959600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:118958600-118960200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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