Variant report

Variant	rs11678101
Chromosome Location	chr2:185331317-185331318
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185330574..185332940-chr2:185333705..185335607,3	K562	blood:
2	chr2:185330612..185332940-chr2:185333705..185335387,2	K562	blood:
3	chr2:185226895..185229045-chr2:185330186..185332070,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10202700	0.82[CHB][hapmap]
rs12474365	0.82[EUR][1000 genomes]
rs12693377	0.99[EUR][1000 genomes]
rs12693382	0.82[CHB][hapmap]
rs17508713	0.82[CHB][hapmap]
rs1820538	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966769	0.96[EUR][1000 genomes]
rs1966770	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1992515	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28709986	0.82[AMR][1000 genomes]
rs6715977	0.82[CHB][hapmap]
rs6733780	0.99[EUR][1000 genomes]
rs6738793	0.82[CHB][hapmap]
rs6751688	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893713	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893716	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893721	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574316	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591757	0.82[CHB][hapmap]
rs7592419	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768352	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv818102	chr2:185210610-185339921	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	esv2756955	chr2:185210745-185370786	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759106	chr2:185210745-185370786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	esv3459904	chr2:185214246-185346055	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	esv3459905	chr2:185214246-185346055	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	esv3693448	chr2:185242856-185333717	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875506	chr2:185242856-185339475	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1006523	chr2:185295690-185350943	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875510	chr2:185296258-185400303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv875511	chr2:185300641-185400303	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv584004	chr2:185326251-185374189	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185331200-185331400	Enhancers	Fetal Intestine Small	intestine

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