Variant report

Variant	rs2365194
Chromosome Location	chr2:31305820-31305821
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	chr2:31304831..31306526-chr2:31316132..31318060,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11686479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010640	0.82[EUR][1000 genomes]
rs17010645	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010685	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17010691	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2113491	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4362605	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4951964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952048	0.94[EUR][1000 genomes];0.97[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
4	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:31301200-31306600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:31301800-31307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:31301800-31307400	Weak transcription	Fetal Brain Female	brain
9	chr2:31302000-31321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:31302600-31325200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:31303000-31307400	Weak transcription	Esophagus	oesophagus
12	chr2:31304000-31309200	Enhancers	Fetal Intestine Small	intestine
13	chr2:31304600-31309800	Enhancers	Fetal Intestine Large	intestine
14	chr2:31304800-31306800	Enhancers	Pancreas	Pancrea
15	chr2:31304800-31310200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:31305000-31306000	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:31305000-31307200	Enhancers	A549	lung
18	chr2:31305200-31311200	Weak transcription	HMEC	breast
19	chr2:31305400-31311200	Weak transcription	NHEK	skin
20	chr2:31305400-31311400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:31305400-31314000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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