Variant report

Variant	rs506358
Chromosome Location	chr4:20565861-20565862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10010466	0.92[MEX][hapmap]
rs10516358	0.84[CHD][hapmap]
rs10938800	0.85[EUR][1000 genomes]
rs11732845	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11732980	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11737654	0.85[EUR][1000 genomes]
rs11936468	0.88[CHD][hapmap];0.90[JPT][hapmap]
rs1457919	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1563657	0.90[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1870260	0.88[CHD][hapmap]
rs2168802	0.80[CHD][hapmap]
rs2290749	0.92[CHD][hapmap]
rs2290750	0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs2290751	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs2292439	0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs34337410	0.81[ASN][1000 genomes]
rs3775827	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs4697169	0.95[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs504754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571433	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs575088	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs587883	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs636798	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs6829152	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6853061	0.81[ASN][1000 genomes]
rs7692811	0.92[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv516999	chr4:20548976-20565861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3692811	chr4:20552510-20565861	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2421650	chr4:20556711-20565861	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv818221	chr4:20557459-20565861	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv964246	chr4:20565331-20567828	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
14	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:20555400-20569200	Weak transcription	Osteobl	bone
16	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial
26	chr4:20563200-20566800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:20565200-20566000	Strong transcription	Fetal Lung	lung
28	chr4:20565400-20566000	Enhancers	Colon Smooth Muscle	Colon

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