Variant report

Variant	rs62489316
Chromosome Location	chr8:11555039-11555040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56745056	1.00[EUR][1000 genomes]
rs62489315	1.00[EUR][1000 genomes]
rs62489318	1.00[EUR][1000 genomes]
rs62489320	1.00[EUR][1000 genomes]
rs62489321	1.00[EUR][1000 genomes]
rs62489323	1.00[EUR][1000 genomes]
rs62489324	1.00[EUR][1000 genomes]
rs62489340	1.00[EUR][1000 genomes]
rs62489341	1.00[EUR][1000 genomes]
rs62489342	1.00[EUR][1000 genomes]
rs62489346	1.00[EUR][1000 genomes]
rs62489347	1.00[EUR][1000 genomes]
rs62489350	1.00[EUR][1000 genomes]
rs62489351	1.00[EUR][1000 genomes]
rs7832153	1.00[EUR][1000 genomes]
rs7844208	1.00[EUR][1000 genomes]
rs7845076	1.00[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	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
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11551400-11557800	Weak transcription	Pancreas	Pancrea
2	chr8:11553200-11555400	Bivalent Enhancer	Fetal Intestine Small	intestine
3	chr8:11554200-11555600	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr8:11554200-11557000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
5	chr8:11554400-11555200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr8:11554400-11555200	Enhancers	Right Ventricle	heart
7	chr8:11554400-11555600	Enhancers	Gastric	stomach
8	chr8:11554400-11557200	Bivalent Enhancer	Placenta	Placenta
9	chr8:11554400-11557800	Enhancers	Left Ventricle	heart
10	chr8:11554600-11555600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:11554600-11555800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11554600-11555800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:11554800-11555400	Enhancers	Fetal Heart	heart
14	chr8:11554800-11555600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr8:11554800-11555800	Flanking Active TSS	Ovary	ovary
16	chr8:11554800-11556400	Bivalent Enhancer	HepG2	liver
17	chr8:11555000-11555200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
18	chr8:11555000-11555200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr8:11555000-11555200	Bivalent Enhancer	Spleen	Spleen
20	chr8:11555000-11555400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:11555000-11555400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr8:11555000-11555400	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr8:11555000-11555600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:11555000-11555600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr8:11555000-11555600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:11555000-11555600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:11555000-11555600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:11555000-11555600	Bivalent Enhancer	Psoas Muscle	Psoas
29	chr8:11555000-11556000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr8:11555000-11556000	Flanking Active TSS	Right Atrium	heart
31	chr8:11555000-11556200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr8:11555000-11556200	Bivalent Enhancer	Lung	lung
33	chr8:11555000-11558200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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