Variant report

Variant	rs7692811
Chromosome Location	chr4:20562080-20562081
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	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10516358	0.87[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11936468	0.89[CHB][hapmap];0.96[CHD][hapmap];0.89[ASN][1000 genomes]
rs11944759	0.85[EUR][1000 genomes]
rs12647264	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1463463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869776	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1870260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870261	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2168802	0.88[CHD][hapmap];0.89[JPT][hapmap]
rs2290749	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290750	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2290751	0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs2292439	0.82[CHD][hapmap]
rs34337410	0.90[ASN][1000 genomes]
rs3756152	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3886678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4466041	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4697169	0.81[JPT][hapmap]
rs4697171	0.85[EUR][1000 genomes]
rs506358	0.92[CHD][hapmap]
rs606524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs636798	0.89[CHB][hapmap];0.96[CHD][hapmap];0.90[ASN][1000 genomes]
rs6813991	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes]
rs6827219	0.89[JPT][hapmap]
rs6847226	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6853061	0.90[ASN][1000 genomes]
rs7683520	1.00[CEU][hapmap];0.85[EUR][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	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	nsv999482	chr4:20546216-20563747	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1007227	chr4:20547578-20563930	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv2760835	chr4:20555720-20563942	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv442896	chr4:20556711-20563942	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2421650	chr4:20556711-20565861	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv818221	chr4:20557459-20565861	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv514200	chr4:20558028-20563890	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv437913	chr4:20562080-20563108	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	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	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
15	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:20555400-20569200	Weak transcription	Osteobl	bone
18	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:20560800-20562200	Weak transcription	Fetal Lung	lung
26	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial

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