Variant report

Variant	rs10091950
Chromosome Location	chr8:9019023-9019024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10088895	0.95[AFR][1000 genomes]
rs10100756	1.00[AMR][1000 genomes]
rs10107835	1.00[AMR][1000 genomes]
rs10107838	1.00[AMR][1000 genomes]
rs10111871	0.84[AFR][1000 genomes]
rs10113601	1.00[AMR][1000 genomes]
rs28500648	1.00[AMR][1000 genomes]
rs34911286	1.00[AMR][1000 genomes]
rs57169303	1.00[AMR][1000 genomes]
rs59830293	1.00[AMR][1000 genomes]
rs59978283	1.00[AMR][1000 genomes]
rs60317720	1.00[AMR][1000 genomes]
rs61240251	1.00[AMR][1000 genomes]
rs73531356	1.00[AMR][1000 genomes]
rs73531363	1.00[AMR][1000 genomes]
rs73662280	1.00[AMR][1000 genomes]
rs73662281	1.00[AMR][1000 genomes]
rs73662282	1.00[AMR][1000 genomes]
rs73662283	1.00[AMR][1000 genomes]
rs73662284	1.00[AMR][1000 genomes]
rs73662285	1.00[AMR][1000 genomes]
rs73662287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active 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	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1016574	chr8:9007186-9061281	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539461	chr8:9007186-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr8:9009400-9039000	Weak transcription	Pancreas	Pancrea
2	chr8:9012400-9022000	Weak transcription	Fetal Intestine Large	intestine
3	chr8:9014200-9021600	Weak transcription	Liver	Liver
4	chr8:9015400-9019600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:9015600-9019400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:9015600-9019400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:9015600-9020800	Weak transcription	Psoas Muscle	Psoas
8	chr8:9015800-9019200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:9016200-9020800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:9016200-9021000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:9016200-9021200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:9016200-9021400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:9016400-9021600	Weak transcription	Fetal Lung	lung
14	chr8:9016800-9019200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:9016800-9019200	Enhancers	HUVEC	blood vessel
16	chr8:9017000-9019200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:9017400-9019200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:9017400-9019400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:9017400-9020800	Weak transcription	Left Ventricle	heart
20	chr8:9017400-9021000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:9017400-9022000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:9017600-9019200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:9017600-9020800	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:9017600-9020800	Weak transcription	Right Atrium	heart
25	chr8:9018600-9019200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:9018600-9020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:9018600-9021000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:9018800-9019200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:9018800-9019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:9019000-9019200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:9019000-9020400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:9019000-9021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:9019000-9021600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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