Variant report

Variant	rs6470819
Chromosome Location	chr8:131436172-131436173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10086454	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10086773	0.88[ASN][1000 genomes]
rs1008819	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs10090106	0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090231	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090767	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099549	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs10099586	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10103132	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10107054	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10956520	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10956522	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956523	0.89[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11784638	0.88[ASN][1000 genomes]
rs11984909	0.83[EUR][1000 genomes]
rs11992885	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992932	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11992957	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993714	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11993741	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11997462	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12678030	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680178	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680697	0.89[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681664	0.87[ASN][1000 genomes]
rs13249894	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13255178	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13260346	0.82[JPT][hapmap]
rs13275147	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13276168	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1340020	0.91[JPT][hapmap]
rs16904260	0.81[JPT][hapmap]
rs16904267	0.88[ASN][1000 genomes]
rs16904268	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17215817	0.90[ASN][1000 genomes]
rs17287702	0.82[JPT][hapmap]
rs1978551	0.82[JPT][hapmap]
rs2791349	0.90[JPT][hapmap]
rs28559741	0.83[EUR][1000 genomes]
rs28562521	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28707621	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28716119	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34003529	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34019017	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34188408	0.83[ASN][1000 genomes]
rs34542318	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34676374	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34737610	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34987314	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35123370	0.88[ASN][1000 genomes]
rs35592532	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4504679	0.83[ASN][1000 genomes]
rs4574884	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs4609234	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs5027392	0.88[ASN][1000 genomes]
rs56677646	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986119	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6986163	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6990443	0.82[JPT][hapmap]
rs7014098	0.82[JPT][hapmap]
rs7812299	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812469	0.89[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822259	0.83[ASN][1000 genomes]
rs7822957	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823146	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7828824	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7838650	0.83[ASN][1000 genomes]
rs7844582	0.81[JPT][hapmap]
rs9297807	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
2	chr8:131429000-131446800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:131429000-131454800	Weak transcription	Aorta	Aorta
4	chr8:131429200-131444800	Weak transcription	HSMMtube	muscle
5	chr8:131429400-131436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131429400-131440200	Weak transcription	Pancreas	Pancrea
7	chr8:131429400-131442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:131429400-131447200	Weak transcription	Gastric	stomach
9	chr8:131429400-131449400	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:131429600-131438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:131429600-131453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:131431600-131442600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:131432000-131436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:131432000-131438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:131432000-131445000	Weak transcription	Psoas Muscle	Psoas
16	chr8:131432200-131436600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:131432200-131439800	Weak transcription	NHDF-Ad	bronchial
18	chr8:131432200-131449400	Weak transcription	Ovary	ovary
19	chr8:131432400-131436400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:131432400-131438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:131432400-131441600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:131432400-131441600	Weak transcription	Osteobl	bone
23	chr8:131432400-131442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:131433200-131437000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:131433400-131436800	Genic enhancers	NHEK	skin
26	chr8:131433600-131437400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:131433800-131438000	Weak transcription	Spleen	Spleen
28	chr8:131433800-131440800	Weak transcription	Right Ventricle	heart
29	chr8:131434000-131443000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:131434200-131443000	Weak transcription	Brain Substantia Nigra	brain
31	chr8:131434400-131436400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:131434600-131436400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:131434600-131436400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:131434600-131436400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131434600-131437600	Weak transcription	HepG2	liver
36	chr8:131434600-131441600	Weak transcription	Hela-S3	cervix
37	chr8:131434600-131447000	Weak transcription	HSMM	muscle
38	chr8:131434600-131447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:131434800-131436400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:131434800-131436400	Weak transcription	Lung	lung
41	chr8:131434800-131436800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:131434800-131438800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:131434800-131442000	Weak transcription	Fetal Stomach	stomach
44	chr8:131434800-131442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:131434800-131453000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:131435000-131436400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:131435000-131436400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:131435000-131436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:131435000-131441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:131435000-131446600	Weak transcription	NH-A	brain

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