Variant report

Variant	rs4501551
Chromosome Location	chr8:92240554-92240555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:92238980..92241118-chr8:92242981..92244553,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10093786	0.86[GIH][hapmap]
rs10110267	0.83[GIH][hapmap]
rs10111323	0.81[CEU][hapmap]
rs10216413	0.90[CHB][hapmap]
rs10942	0.91[CHB][hapmap]
rs10956790	0.91[CHB][hapmap]
rs10956792	0.91[CHB][hapmap];0.88[GIH][hapmap]
rs10956794	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs10956795	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11778758	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs11783034	0.85[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs11784415	0.82[GIH][hapmap]
rs11785003	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs12334996	0.91[CHB][hapmap]
rs12540975	0.85[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12545986	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12546650	0.93[GIH][hapmap];0.87[TSI][hapmap]
rs12549426	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13252561	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13261830	0.88[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13265714	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs35066004	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[GIH][hapmap]
rs3808378	0.91[CHB][hapmap];0.86[GIH][hapmap]
rs3885968	0.91[CHB][hapmap]
rs3885969	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap]
rs3923174	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4128119	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4129720	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[GIH][hapmap]
rs4259383	0.88[AMR][1000 genomes]
rs4373488	0.91[CHB][hapmap];0.86[GIH][hapmap]
rs4419777	0.82[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs4476968	0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4493873	0.83[GIH][hapmap]
rs4501547	0.86[JPT][hapmap]
rs4501548	0.91[CHB][hapmap];0.86[GIH][hapmap]
rs4501550	0.83[GIH][hapmap]
rs4524748	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs4577919	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs4596614	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620242	0.85[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs55779688	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62526707	0.82[AMR][1000 genomes]
rs62526730	0.86[AMR][1000 genomes]
rs6471268	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes]
rs6987417	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6987764	0.92[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6993713	0.86[CHB][hapmap]
rs7815938	0.85[GIH][hapmap]
rs7820904	0.91[CHB][hapmap];0.88[GIH][hapmap]
rs7832592	0.91[CHB][hapmap]
rs7832896	0.86[GIH][hapmap]
rs7845508	0.86[GIH][hapmap]
rs8081	0.87[CHB][hapmap]
rs9643319	0.91[CHB][hapmap]
rs9918929	0.91[CHB][hapmap];0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4501551	RUNX1T1	cis	cerebellum	SCAN
rs4501551	SLC26A7	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92239600-92240600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:92240000-92243800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:92240200-92240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:92240200-92240600	Enhancers	Adipose Nuclei	Adipose
5	chr8:92240200-92240800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:92240200-92240800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:92240200-92240800	Enhancers	Ovary	ovary
8	chr8:92240200-92240800	Enhancers	Right Atrium	heart
9	chr8:92240200-92240800	Enhancers	Right Ventricle	heart
10	chr8:92240200-92241400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:92240200-92241600	Enhancers	Fetal Kidney	kidney
12	chr8:92240200-92241600	Enhancers	Fetal Stomach	stomach
13	chr8:92240200-92241600	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:92240200-92242000	Enhancers	Fetal Lung	lung
15	chr8:92240400-92240600	Enhancers	Brain Substantia Nigra	brain
16	chr8:92240400-92240800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:92240400-92240800	Enhancers	Aorta	Aorta
18	chr8:92240400-92240800	Enhancers	Gastric	stomach
19	chr8:92240400-92240800	Enhancers	Left Ventricle	heart
20	chr8:92240400-92240800	Enhancers	NHDF-Ad	bronchial
21	chr8:92240400-92241400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:92240400-92241400	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links