Variant report

Variant	rs62139775
Chromosome Location	chr2:53886995-53886996
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
2	chr2:53883597..53885623-chr2:53885808..53888099,2	MCF-7	breast:
3	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10490465	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11900355	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13428687	0.89[ASN][1000 genomes]
rs13428898	0.91[ASN][1000 genomes]
rs17045037	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045048	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17045065	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17045081	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17045084	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34408637	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731970	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770407	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770408	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770409	0.90[ASN][1000 genomes]
rs3930	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4525731	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55861447	0.91[ASN][1000 genomes]
rs56081218	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56311225	0.90[ASN][1000 genomes]
rs56383522	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58125503	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58515086	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60282090	0.92[ASN][1000 genomes]
rs61671599	0.87[ASN][1000 genomes]
rs62139773	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62139774	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62139785	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62139788	0.92[ASN][1000 genomes]
rs62139836	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72901209	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73934971	0.85[ASN][1000 genomes]
rs7600981	0.92[ASN][1000 genomes]

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	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53879400-53895600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:53881200-53895800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:53881800-53896400	Weak transcription	Aorta	Aorta
6	chr2:53882600-53888200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:53882600-53894000	Weak transcription	Fetal Stomach	stomach
8	chr2:53882800-53895600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:53883200-53897800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:53883600-53896600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:53885000-53895800	Weak transcription	Dnd41	blood
12	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:53886000-53888000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:53886400-53887000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:53886600-53896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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