Variant report

Variant	rs2994948
Chromosome Location	chr1:85051842-85051843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84967877..84971482-chr1:85048294..85051877,3	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10493752	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11164000	1.00[JPT][hapmap]
rs11164004	0.85[ASN][1000 genomes]
rs11164005	0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12119873	0.93[EUR][1000 genomes]
rs12123470	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127160	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12131448	0.93[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137275	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12140532	0.85[ASN][1000 genomes]
rs12141472	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12145771	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1417295	0.80[EUR][1000 genomes]
rs1517601	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1517602	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs15911	0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17374628	0.85[ASN][1000 genomes]
rs17374941	0.85[ASN][1000 genomes]
rs1914477	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2203455	0.86[EUR][1000 genomes]
rs2303307	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs2911591	0.81[EUR][1000 genomes]
rs2911592	0.85[EUR][1000 genomes]
rs2911594	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2911597	0.81[EUR][1000 genomes]
rs2911598	0.81[CEU][hapmap]
rs2911599	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2911607	0.80[EUR][1000 genomes]
rs2943671	0.83[EUR][1000 genomes]
rs2945143	0.80[EUR][1000 genomes]
rs2945145	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2945147	0.82[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2994935	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2994937	0.81[EUR][1000 genomes]
rs2994938	0.81[EUR][1000 genomes]
rs41299545	0.81[EUR][1000 genomes]
rs4356070	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4907080	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7517756	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2994948	CTBS	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85049200-85053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:85050000-85053200	Weak transcription	Fetal Brain Male	brain
3	chr1:85050800-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:85051000-85052200	Enhancers	HMEC	breast
5	chr1:85051000-85052400	Weak transcription	Spleen	Spleen
6	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:85051400-85052000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:85051400-85052200	Enhancers	NHEK	skin
9	chr1:85051400-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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