Variant report

Variant	rs11889422
Chromosome Location	chr2:210287742-210287743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10497930	0.91[EUR][1000 genomes]
rs11884784	0.85[AFR][1000 genomes]
rs11886253	0.85[AFR][1000 genomes]
rs11891941	0.85[AFR][1000 genomes]
rs17235072	0.97[EUR][1000 genomes]
rs56389925	0.81[EUR][1000 genomes]
rs6738954	0.85[AFR][1000 genomes]
rs72991898	0.91[EUR][1000 genomes]
rs72993710	0.91[EUR][1000 genomes]
rs72993758	0.97[EUR][1000 genomes]
rs72995630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995661	0.88[EUR][1000 genomes]
rs72995674	0.88[EUR][1000 genomes]
rs72995682	0.88[EUR][1000 genomes]
rs72997604	0.81[EUR][1000 genomes]
rs73065154	0.85[AFR][1000 genomes]
rs73065162	0.85[AFR][1000 genomes]
rs73065172	0.85[AFR][1000 genomes]
rs73065196	0.81[AFR][1000 genomes]
rs7587613	0.91[EUR][1000 genomes]
rs7606091	0.91[EUR][1000 genomes]
rs992029	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210279000-210288400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:210285400-210288200	Weak transcription	Psoas Muscle	Psoas
3	chr2:210286800-210288200	Enhancers	NHEK	skin
4	chr2:210287000-210288000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:210287200-210288200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:210287200-210288200	Weak transcription	Pancreas	Pancrea
7	chr2:210287200-210288200	Enhancers	HMEC	breast
8	chr2:210287200-210288400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:210287400-210288000	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links