Variant report

Variant	rs1109286
Chromosome Location	chr2:46633930-46633931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46631775..46634525-chr2:46644116..46646273,2	K562	blood:
2	chr2:46633572..46635870-chr2:46669679..46671465,2	MCF-7	breast:
3	chr2:46631440..46633465-chr2:46633635..46635247,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11675328	0.89[ASN][1000 genomes]
rs11678465	0.83[MEX][hapmap]
rs11686509	0.89[ASN][1000 genomes]
rs11686705	0.84[ASN][1000 genomes]
rs11691694	0.88[ASN][1000 genomes]
rs11693596	0.85[ASN][1000 genomes]
rs11693754	0.89[ASN][1000 genomes]
rs12986653	1.00[YRI][hapmap]
rs13002880	1.00[YRI][hapmap]
rs13006131	0.88[MEX][hapmap]
rs13007688	1.00[YRI][hapmap]
rs13011481	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs13030579	1.00[YRI][hapmap]
rs1530621	1.00[YRI][hapmap]
rs1530622	0.92[CHB][hapmap]
rs2121698	1.00[YRI][hapmap]
rs35193335	0.88[ASN][1000 genomes]
rs3754556	0.82[YRI][hapmap]
rs3768730	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4952823	0.81[ASN][1000 genomes]
rs4952831	0.82[YRI][hapmap]
rs4952833	0.82[YRI][hapmap]
rs4953372	1.00[YRI][hapmap]
rs4953387	1.00[YRI][hapmap]
rs4953388	1.00[YRI][hapmap]
rs4953390	1.00[YRI][hapmap]
rs55826825	0.86[ASN][1000 genomes]
rs58481769	0.89[ASN][1000 genomes]
rs62138871	0.89[ASN][1000 genomes]
rs6544898	0.82[YRI][hapmap]
rs7557190	0.82[YRI][hapmap]
rs7583088	0.83[MEX][hapmap]
rs7583392	0.82[MEX][hapmap]
rs7591548	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7594278	0.83[MEX][hapmap]
rs7607633	0.82[YRI][hapmap]
rs880671	0.82[YRI][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:16 , 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	chr2:46631200-46634200	Enhancers	Placenta	Placenta
5	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:46631400-46635200	Weak transcription	A549	lung
7	chr2:46632400-46634000	Enhancers	Stomach Smooth Muscle	stomach
8	chr2:46632600-46636200	Weak transcription	K562	blood
9	chr2:46633000-46634400	Weak transcription	Colonic Mucosa	Colon
10	chr2:46633200-46635400	Weak transcription	Fetal Intestine Large	intestine
11	chr2:46633400-46636400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:46633600-46639000	Enhancers	Esophagus	oesophagus
13	chr2:46633800-46635600	Enhancers	HepG2	liver
14	chr2:46633800-46637800	Enhancers	Pancreas	Pancrea
15	chr2:46633800-46638800	Enhancers	Stomach Mucosa	stomach
16	chr2:46633800-46642000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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