Variant report

Variant	rs58644770
Chromosome Location	chr2:187595367-187595368
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	chr2:187588854..187590720-chr2:187592997..187595424,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11678190	0.87[ASN][1000 genomes]
rs11683898	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11685758	0.85[ASN][1000 genomes]
rs12151442	0.85[ASN][1000 genomes]
rs12615659	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12998294	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13001028	0.85[ASN][1000 genomes]
rs13016261	0.85[ASN][1000 genomes]
rs13027560	0.85[ASN][1000 genomes]
rs13028817	0.85[ASN][1000 genomes]
rs13030356	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033579	0.81[ASN][1000 genomes]
rs17334303	0.85[ASN][1000 genomes]
rs17334422	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17406339	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1839123	0.85[ASN][1000 genomes]
rs2084448	0.85[ASN][1000 genomes]
rs2595375	0.85[EUR][1000 genomes]
rs34483988	0.87[ASN][1000 genomes]
rs35055112	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35251833	0.85[ASN][1000 genomes]
rs35986780	0.81[ASN][1000 genomes]
rs36117902	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3816386	0.85[ASN][1000 genomes]
rs6717512	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7419327	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7593018	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9789682	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998972	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:187590800-187597800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:187591800-187595400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:187592200-187595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:187592200-187618600	Weak transcription	Osteobl	bone
6	chr2:187592400-187595800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:187592400-187595800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:187592400-187595800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:187592400-187596000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:187592600-187597400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:187594000-187595400	Enhancers	Brain Germinal Matrix	brain
12	chr2:187594000-187596200	Enhancers	Fetal Brain Male	brain
13	chr2:187594600-187595400	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:187594600-187595600	Enhancers	Fetal Brain Female	brain
15	chr2:187594600-187596600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:187594600-187598200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:187594600-187598400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:187595000-187595600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:187595000-187596000	Enhancers	Brain Hippocampus Middle	brain
20	chr2:187595200-187602600	Weak transcription	Brain Anterior Caudate	brain

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