Variant report

Variant	rs57718949
Chromosome Location	chr2:211406207-211406208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10515951	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10932340	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694200	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12992801	0.82[AMR][1000 genomes]
rs13005638	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13013076	0.82[AMR][1000 genomes]
rs13035785	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1509816	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1858194	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1858195	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2160851	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370962	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2664239	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35003355	0.84[AMR][1000 genomes]
rs35087298	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35672393	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3770688	0.94[AMR][1000 genomes]
rs3845634	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4640325	0.82[AMR][1000 genomes]
rs4672580	0.89[EUR][1000 genomes]
rs4672581	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4672582	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62203712	0.93[ASN][1000 genomes]
rs6749711	0.90[EUR][1000 genomes]
rs6752530	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7590759	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs759688	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs759689	0.83[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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211404200-211406600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:211405000-211406600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:211405000-211408000	Enhancers	Fetal Intestine Small	intestine
4	chr2:211405000-211409800	Enhancers	Fetal Intestine Large	intestine
5	chr2:211405200-211406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:211405400-211406400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:211405600-211406400	Enhancers	Brain Angular Gyrus	brain
8	chr2:211405600-211406400	Enhancers	Brain Hippocampus Middle	brain
9	chr2:211405600-211406600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:211405600-211406600	Flanking Active TSS	HepG2	liver
11	chr2:211405600-211406800	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:211405600-211406800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:211405600-211406800	Enhancers	Fetal Lung	lung
14	chr2:211405800-211406400	Enhancers	Brain Germinal Matrix	brain
15	chr2:211405800-211406600	Enhancers	Brain Substantia Nigra	brain
16	chr2:211405800-211407800	Enhancers	Pancreas	Pancrea
17	chr2:211406000-211406800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:211406000-211406800	Active TSS	Fetal Brain Male	brain
19	chr2:211406000-211413800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:211406200-211408000	Enhancers	Liver	Liver
21	chr2:211406200-211413600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:211406200-211421000	Weak transcription	H1 Cell Line	embryonic stem cell

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