Variant report

Variant	rs949559
Chromosome Location	chr5:42361779-42361780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10054119	0.95[ASN][1000 genomes]
rs10078980	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10461736	0.83[ASN][1000 genomes]
rs12153093	0.83[ASN][1000 genomes]
rs12514403	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12515480	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12517368	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12517869	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12518010	0.98[AMR][1000 genomes]
rs12518274	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12520405	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12522095	1.00[AFR][1000 genomes]
rs12522222	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12522421	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12654986	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1509462	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1509463	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs16872537	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872543	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1876789	0.98[ASN][1000 genomes]
rs1979994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs28498583	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs28943875	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs28943877	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34813199	0.98[ASN][1000 genomes]
rs36072701	1.00[EUR][1000 genomes]
rs4866781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4866782	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4866788	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4866790	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4866795	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866812	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4866896	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866901	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866919	0.91[AMR][1000 genomes]
rs4866932	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4866933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4866935	0.98[AMR][1000 genomes]
rs58179197	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs6861468	0.87[ASN][1000 genomes]
rs6882434	1.00[EUR][1000 genomes]
rs6882555	1.00[EUR][1000 genomes]
rs6887373	1.00[EUR][1000 genomes]
rs6887391	1.00[EUR][1000 genomes]
rs6887759	1.00[EUR][1000 genomes]
rs73091966	1.00[EUR][1000 genomes]
rs73091974	1.00[EUR][1000 genomes]
rs7379247	1.00[EUR][1000 genomes]
rs7380353	1.00[EUR][1000 genomes]
rs7380870	1.00[EUR][1000 genomes]
rs9654394	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42359800-42362000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:42359800-42362200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:42360000-42361800	Enhancers	NHDF-Ad	bronchial
4	chr5:42360000-42362200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:42360000-42362400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:42360000-42362400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:42360400-42362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:42360600-42362200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:42360600-42362200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:42360800-42362600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:42360800-42363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:42361000-42362400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:42361200-42362800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:42361400-42362200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:42361400-42366800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:42361600-42362000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:42361600-42366400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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