Variant report

Variant	rs632956
Chromosome Location	chr6:101839454-101839455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10457930	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12204255	1.00[ASN][1000 genomes]
rs12208565	1.00[ASN][1000 genomes]
rs1415946	1.00[GIH][hapmap]
rs1948050	0.81[EUR][1000 genomes]
rs2254178	1.00[ASN][1000 genomes]
rs2518173	0.81[EUR][1000 genomes]
rs2518319	0.81[EUR][1000 genomes]
rs2579929	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629982	0.81[EUR][1000 genomes]
rs2764271	1.00[ASN][1000 genomes]
rs2787573	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852497	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852500	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2852502	0.94[EUR][1000 genomes]
rs2852503	0.93[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs2852504	0.95[EUR][1000 genomes]
rs2852505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852506	0.95[EUR][1000 genomes]
rs2852507	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs2852508	1.00[GIH][hapmap]
rs2852509	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs2852510	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852511	1.00[GIH][hapmap];0.95[EUR][1000 genomes]
rs2852512	0.93[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs2852513	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852514	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496596	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503387	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570556	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579069	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62419629	1.00[ASN][1000 genomes]
rs626262	1.00[ASN][1000 genomes]
rs643101	1.00[ASN][1000 genomes]
rs658318	1.00[ASN][1000 genomes]
rs661064	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662360	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs675259	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs687497	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697438	1.00[ASN][1000 genomes]
rs72958632	1.00[ASN][1000 genomes]
rs9485499	1.00[CHD][hapmap]

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	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv515487	chr6:101831312-101840009	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs632956	ABLIM1	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101839000-101839600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:101839200-101839600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr6:101839200-101839600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
4	chr6:101839200-101839600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:101839200-101839800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
7	chr6:101839400-101839600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
8	chr6:101839400-101839600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr6:101839400-101839600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr6:101839400-101839600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr6:101839400-101839600	Enhancers	Brain Substantia Nigra	brain
13	chr6:101839400-101839800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr6:101839400-101840200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:101839400-101840200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:101839400-101840200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:101839400-101840200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:101839400-101840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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