Variant report

Variant	rs12302091
Chromosome Location	chr12:47006790-47006791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10467215	0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs11183482	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11183500	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11183510	0.88[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs11183512	0.83[ASN][1000 genomes]
rs11183513	0.83[ASN][1000 genomes]
rs11183541	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1118657	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1118658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11504533	0.90[ASN][1000 genomes]
rs12296535	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12296783	0.81[ASN][1000 genomes]
rs12299499	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12303838	0.80[ASN][1000 genomes]
rs12306495	0.92[ASN][1000 genomes]
rs12307183	0.90[ASN][1000 genomes]
rs12311537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12317179	0.82[ASN][1000 genomes]
rs12317255	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12318364	0.90[ASN][1000 genomes]
rs12321468	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12321960	0.89[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs13377959	0.82[CHB][hapmap]
rs17096998	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs1895088	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34098443	0.83[ASN][1000 genomes]
rs3935048	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs57964461	0.90[ASN][1000 genomes]
rs58127062	0.86[ASN][1000 genomes]
rs58190601	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58353248	0.86[ASN][1000 genomes]
rs60053128	0.92[ASN][1000 genomes]
rs60487001	0.90[ASN][1000 genomes]
rs61562961	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7313172	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73293953	0.90[ASN][1000 genomes]
rs759702	0.80[ASN][1000 genomes]
rs759703	0.80[ASN][1000 genomes]
rs7953339	0.88[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7967889	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7980023	0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46985600-47007000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:46997200-47007000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:46998400-47010000	Weak transcription	Gastric	stomach
4	chr12:47002000-47007200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:47003000-47012000	Weak transcription	Psoas Muscle	Psoas
6	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:47003200-47025600	Weak transcription	NHEK	skin
8	chr12:47003800-47008600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:47004000-47008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:47004000-47008800	Weak transcription	Liver	Liver
11	chr12:47004000-47010000	Weak transcription	NHLF	lung
12	chr12:47004000-47010600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:47004800-47007800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
15	chr12:47006000-47007000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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