Variant report

Variant	rs12623342
Chromosome Location	chr2:46634800-46634801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46633942..46636867-chr2:46657432..46660033,3	K562	blood:
2	chr2:46633942..46636424-chr2:46657432..46659768,2	K562	blood:
3	chr2:46633572..46635870-chr2:46669679..46671465,2	MCF-7	breast:
4	chr2:46634475..46637528-chr2:46648902..46652538,3	K562	blood:
5	chr2:46631440..46633465-chr2:46633635..46635247,2	K562	blood:
6	chr2:46634737..46637528-chr2:46648902..46651516,2	K562	blood:
7	chr2:46629153..46633507-chr2:46634086..46636395,4	MCF-7	breast:
8	chr2:46404430..46406212-chr2:46634124..46636949,2	K562	blood:

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12474961	1.00[CEU][hapmap]
rs12615460	1.00[CEU][hapmap]
rs12622818	1.00[CEU][hapmap]
rs1530623	1.00[CEU][hapmap]
rs1868090	0.82[EUR][1000 genomes]
rs2121699	1.00[CEU][hapmap]
rs2166746	1.00[CEU][hapmap]
rs4953363	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs4953364	1.00[CEU][hapmap]
rs4953376	1.00[CEU][hapmap]
rs72618619	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574467	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46629000-46636000	Weak transcription	Right Ventricle	heart
3	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:46631400-46635200	Weak transcription	A549	lung
6	chr2:46632600-46636200	Weak transcription	K562	blood
7	chr2:46633200-46635400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:46633400-46636400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
10	chr2:46633800-46635600	Enhancers	HepG2	liver
11	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
12	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
13	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:46634000-46635200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:46634200-46634800	Genic enhancers	Placenta	Placenta
16	chr2:46634200-46634800	Enhancers	Gastric	stomach
17	chr2:46634400-46634800	Enhancers	Spleen	Spleen
18	chr2:46634400-46635400	Enhancers	Hela-S3	cervix
19	chr2:46634400-46636200	Enhancers	Lung	lung
20	chr2:46634400-46637200	Enhancers	Colonic Mucosa	Colon
21	chr2:46634600-46635200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:46634600-46635800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:46634600-46639400	Enhancers	HMEC	breast
24	chr2:46634800-46637000	Enhancers	Placenta	Placenta
25	chr2:46634800-46637800	Weak transcription	Gastric	stomach
26	chr2:46634800-46641800	Weak transcription	Spleen	Spleen

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