Variant report

Variant	rs12686588
Chromosome Location	chr9:97961305-97961306
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	chr9:97960729..97962513-chr9:97968919..97971853,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12683030	0.85[JPT][hapmap]
rs12683182	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs12684215	1.00[ASN][1000 genomes]
rs12685903	1.00[ASN][1000 genomes]
rs1875835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1886993	1.00[ASN][1000 genomes]
rs2121200	1.00[ASN][1000 genomes]
rs2404458	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35108112	1.00[ASN][1000 genomes]
rs3780566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3802449	0.85[JPT][hapmap]
rs400727	0.85[JPT][hapmap]
rs4647348	0.89[ASN][1000 genomes]
rs4647352	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4647354	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.89[ASN][1000 genomes]
rs4647360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647386	1.00[ASN][1000 genomes]
rs4647387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4647397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647398	1.00[ASN][1000 genomes]
rs4647402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647405	1.00[ASN][1000 genomes]
rs4647408	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs4647414	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs4647436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647449	1.00[ASN][1000 genomes]
rs4647465	1.00[ASN][1000 genomes]
rs4647466	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647473	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647477	1.00[ASN][1000 genomes]
rs4647484	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs4647485	1.00[ASN][1000 genomes]
rs4647486	1.00[ASN][1000 genomes]
rs4647491	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs4647508	1.00[ASN][1000 genomes]
rs4647509	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647510	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647514	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs4647516	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4647521	0.88[ASN][1000 genomes]
rs4647549	0.88[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MKK][hapmap]
rs60228132	1.00[ASN][1000 genomes]
rs7037729	1.00[ASN][1000 genomes]
rs73530498	1.00[ASN][1000 genomes]
rs73532103	1.00[ASN][1000 genomes]
rs73534887	1.00[ASN][1000 genomes]
rs73534888	1.00[ASN][1000 genomes]
rs73534896	0.89[ASN][1000 genomes]
rs73534898	1.00[ASN][1000 genomes]
rs7854840	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9792415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs9792481	1.00[ASN][1000 genomes]
rs9792533	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[ASN][1000 genomes]
rs9792691	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
2	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97952600-97963200	Weak transcription	Spleen	Spleen
2	chr9:97952600-97969400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:97953000-97961600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:97953000-97961600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:97956000-97963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:97958800-97968400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:97959000-97968400	Weak transcription	Fetal Intestine Large	intestine
8	chr9:97959200-97962000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:97960000-97961800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:97960000-97964800	Enhancers	Fetal Stomach	stomach
11	chr9:97960200-97966600	Weak transcription	Lung	lung
12	chr9:97960400-97961600	Weak transcription	Esophagus	oesophagus
13	chr9:97960400-97961600	Weak transcription	Pancreas	Pancrea
14	chr9:97960400-97961600	Weak transcription	Stomach Mucosa	stomach
15	chr9:97960400-97967000	Weak transcription	Aorta	Aorta
16	chr9:97960600-97961800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:97960600-97963200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:97960600-97963400	Weak transcription	Fetal Lung	lung
19	chr9:97960600-97964600	Weak transcription	Gastric	stomach
20	chr9:97960600-97969200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:97960800-97961800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:97960800-97963800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:97961000-97961800	Weak transcription	Right Atrium	heart
24	chr9:97961000-97963200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:97961000-97964800	Weak transcription	NHEK	skin
26	chr9:97961000-97965000	Weak transcription	NH-A	brain
27	chr9:97961000-97966600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:97961000-97966600	Weak transcription	HSMMtube	muscle
29	chr9:97961000-97968000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:97961000-97968000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr9:97961000-97968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:97961200-97967800	Weak transcription	HSMM	muscle

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