Variant report

Variant	rs7688236
Chromosome Location	chr4:86804078-86804079
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10023559	0.83[ASN][1000 genomes]
rs10023650	0.83[ASN][1000 genomes]
rs11721455	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724703	1.00[ASN][1000 genomes]
rs11734835	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736203	1.00[ASN][1000 genomes]
rs11931275	1.00[ASN][1000 genomes]
rs11944662	0.83[ASN][1000 genomes]
rs12645494	0.83[ASN][1000 genomes]
rs13123763	1.00[ASN][1000 genomes]
rs13132091	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134118	1.00[ASN][1000 genomes]
rs13134252	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150958	1.00[ASN][1000 genomes]
rs1452685	0.84[AFR][1000 genomes]
rs1473010	0.83[ASN][1000 genomes]
rs17011041	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs17011082	1.00[ASN][1000 genomes]
rs17011102	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs1812330	1.00[ASN][1000 genomes]
rs1812331	1.00[ASN][1000 genomes]
rs1901675	0.88[YRI][hapmap]
rs2123361	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167715	1.00[ASN][1000 genomes]
rs2175309	0.83[ASN][1000 genomes]
rs2575685	0.83[ASN][1000 genomes]
rs2601841	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601844	0.84[AFR][1000 genomes]
rs2601848	0.84[AFR][1000 genomes]
rs2601849	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2601850	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601853	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs2601868	0.91[ASW][hapmap];0.89[LWK][hapmap];0.84[AFR][1000 genomes]
rs2665864	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2665870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345331	0.83[ASN][1000 genomes]
rs345332	0.83[ASN][1000 genomes]
rs345336	0.83[ASN][1000 genomes]
rs345341	0.88[YRI][hapmap]
rs345349	0.88[YRI][hapmap]
rs345356	0.83[ASN][1000 genomes]
rs345360	0.83[ASN][1000 genomes]
rs346468	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs346481	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs346511	0.83[ASN][1000 genomes]
rs346512	0.83[ASN][1000 genomes]
rs346514	0.83[ASN][1000 genomes]
rs346515	0.83[ASN][1000 genomes]
rs346519	1.00[ASN][1000 genomes]
rs34836472	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35114569	1.00[ASN][1000 genomes]
rs35852536	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35900112	0.83[ASN][1000 genomes]
rs35941601	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36168230	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147415	0.83[ASN][1000 genomes]
rs4599406	1.00[ASN][1000 genomes]
rs4693750	0.83[ASN][1000 genomes]
rs6531879	0.83[ASN][1000 genomes]
rs6531880	0.83[ASN][1000 genomes]
rs6818942	0.82[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs70948760	1.00[ASN][1000 genomes]
rs71599431	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71603467	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672187	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs7684201	0.83[ASN][1000 genomes]
rs7684540	1.00[ASN][1000 genomes]
rs7685869	0.83[ASN][1000 genomes]
rs7693916	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695035	1.00[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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2753470	chr4:86804078-86844350	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7688236	STAT1	trans	brain	seeQTL
rs7688236	IFI44L	trans	brain	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86788000-86807400	Weak transcription	Left Ventricle	heart
3	chr4:86788000-86810800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:86788000-86812400	Weak transcription	HSMM	muscle
5	chr4:86788200-86812000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:86791000-86804200	Weak transcription	HSMMtube	muscle
8	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:86794600-86804800	Weak transcription	HUVEC	blood vessel
10	chr4:86794800-86805600	Weak transcription	Pancreas	Pancrea
11	chr4:86800600-86805400	Weak transcription	Primary B cells from cord blood	blood
12	chr4:86802200-86804400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:86802400-86809000	Weak transcription	NHDF-Ad	bronchial
14	chr4:86802800-86805400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:86803800-86804200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:86803800-86804400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:86803800-86805600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:86804000-86804400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:86804000-86804400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:86804000-86804800	Enhancers	Aorta	Aorta

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