Variant report

Variant	rs345360
Chromosome Location	chr4:86778943-86778944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10023559	1.00[CHB][hapmap]
rs10023650	1.00[CHB][hapmap]
rs10034094	0.81[EUR][1000 genomes]
rs11097078	0.83[EUR][1000 genomes]
rs11721455	0.83[ASN][1000 genomes]
rs11724703	0.83[ASN][1000 genomes]
rs11734835	0.83[ASN][1000 genomes]
rs11736203	0.83[ASN][1000 genomes]
rs11931275	0.83[ASN][1000 genomes]
rs12152604	0.90[EUR][1000 genomes]
rs12152609	0.89[EUR][1000 genomes]
rs13123763	0.83[ASN][1000 genomes]
rs13132091	0.83[ASN][1000 genomes]
rs13134118	0.83[ASN][1000 genomes]
rs13134252	0.83[ASN][1000 genomes]
rs13150958	0.83[ASN][1000 genomes]
rs1473010	1.00[CHB][hapmap]
rs1473012	0.89[EUR][1000 genomes]
rs1473013	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs1473014	0.89[EUR][1000 genomes]
rs1473015	0.89[EUR][1000 genomes]
rs1510583	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1606017	0.89[EUR][1000 genomes]
rs17011082	0.83[ASN][1000 genomes]
rs17011102	0.83[ASN][1000 genomes]
rs1812330	0.83[ASN][1000 genomes]
rs1812331	0.83[ASN][1000 genomes]
rs2008488	1.00[CHB][hapmap]
rs2123361	0.83[ASN][1000 genomes]
rs2167715	0.83[ASN][1000 genomes]
rs2575685	1.00[CHB][hapmap]
rs2601841	0.83[ASN][1000 genomes]
rs2601842	0.83[ASN][1000 genomes]
rs2601850	0.83[ASN][1000 genomes]
rs2601869	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2665870	0.83[ASN][1000 genomes]
rs2665874	0.83[ASN][1000 genomes]
rs28641527	0.85[EUR][1000 genomes]
rs2869406	0.83[EUR][1000 genomes]
rs28698740	0.85[EUR][1000 genomes]
rs28770594	0.89[EUR][1000 genomes]
rs28814882	0.89[EUR][1000 genomes]
rs345328	0.82[GIH][hapmap]
rs345331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345348	0.89[EUR][1000 genomes]
rs345353	1.00[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs345356	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs345363	0.96[GIH][hapmap]
rs346468	0.83[ASN][1000 genomes]
rs346481	0.83[ASN][1000 genomes]
rs346514	1.00[CHB][hapmap]
rs346515	1.00[CHB][hapmap]
rs346519	0.83[ASN][1000 genomes]
rs34836472	0.83[ASN][1000 genomes]
rs35114569	0.83[ASN][1000 genomes]
rs35852536	0.83[ASN][1000 genomes]
rs35900112	1.00[CHB][hapmap]
rs35941601	0.83[ASN][1000 genomes]
rs36168230	0.83[ASN][1000 genomes]
rs4147415	1.00[CHB][hapmap]
rs4420970	0.89[EUR][1000 genomes]
rs4423865	0.89[EUR][1000 genomes]
rs4599406	0.83[ASN][1000 genomes]
rs4693747	0.89[EUR][1000 genomes]
rs4693748	0.89[EUR][1000 genomes]
rs4693749	0.96[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs4693750	1.00[CHB][hapmap]
rs62315465	0.89[EUR][1000 genomes]
rs6531880	1.00[CHB][hapmap]
rs6818942	0.83[ASN][1000 genomes]
rs6820090	0.84[EUR][1000 genomes]
rs6834349	0.96[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs70948760	0.83[ASN][1000 genomes]
rs71599431	0.83[ASN][1000 genomes]
rs71603467	0.83[ASN][1000 genomes]
rs7672187	0.83[ASN][1000 genomes]
rs7684540	0.83[ASN][1000 genomes]
rs7685869	1.00[CHB][hapmap]
rs7688236	0.83[ASN][1000 genomes]
rs7693916	0.83[ASN][1000 genomes]
rs7695035	0.83[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	nsv879518	chr4:86739805-86778943	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs345360	HSD17B11	cis	cerebellum	SCAN
rs345360	THAP9	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86749400-86787600	Weak transcription	Pancreas	Pancrea
2	chr4:86750000-86809200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:86760000-86782600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:86764000-86780800	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86770000-86783600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:86774400-86780200	Weak transcription	Fetal Brain Male	brain
7	chr4:86774600-86780200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:86776000-86780200	Weak transcription	HSMM	muscle
9	chr4:86776000-86790400	Weak transcription	Right Atrium	heart
10	chr4:86776200-86779200	Weak transcription	NHDF-Ad	bronchial
11	chr4:86776200-86780200	Weak transcription	Fetal Heart	heart
12	chr4:86776200-86780200	Weak transcription	Left Ventricle	heart
13	chr4:86776200-86780800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:86776200-86780800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:86776200-86780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:86776200-86780800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:86776400-86780200	Weak transcription	HSMMtube	muscle
18	chr4:86776600-86779600	Weak transcription	HUVEC	blood vessel
19	chr4:86778200-86779800	Strong transcription	Primary B cells from cord blood	blood
20	chr4:86778600-86779400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:86778800-86779000	Active TSS	Fetal Lung	lung

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