Variant report

Variant	rs12305966
Chromosome Location	chr12:31797339-31797340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr12:31797207-31797990	A549	lung:	n/a	chr12:31797386-31797400
2	NR3C1	chr12:31797228-31797928	A549	lung:	n/a	chr12:31797386-31797400

Variant related genes	Relation type
METTL20	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11051486	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11051497	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11051505	0.82[JPT][hapmap]
rs11051507	0.82[JPT][hapmap]
rs11051508	0.82[JPT][hapmap]
rs1150944	1.00[CEU][hapmap]
rs1150952	1.00[CEU][hapmap]
rs1150956	1.00[CEU][hapmap]
rs1150957	1.00[CEU][hapmap]
rs1150959	1.00[CEU][hapmap]
rs1150960	1.00[CEU][hapmap]
rs1150961	1.00[CEU][hapmap]
rs12302576	1.00[CEU][hapmap]
rs1259215	1.00[CEU][hapmap]
rs1259237	1.00[CEU][hapmap]
rs1259358	1.00[CEU][hapmap]
rs1259406	1.00[CEU][hapmap]
rs1259408	1.00[CEU][hapmap]
rs1259421	1.00[CEU][hapmap]
rs1259424	1.00[CEU][hapmap]
rs1259425	1.00[CEU][hapmap]
rs1267631	1.00[CEU][hapmap]
rs1267686	1.00[CEU][hapmap]
rs1267688	1.00[CEU][hapmap]
rs1267689	1.00[CEU][hapmap]
rs1677155	1.00[CEU][hapmap]
rs1677156	1.00[CEU][hapmap]
rs1677172	0.82[ASN][1000 genomes]
rs1677188	1.00[CEU][hapmap]
rs1677190	1.00[CEU][hapmap]
rs2447707	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2617179	1.00[CEU][hapmap]
rs2617186	1.00[CEU][hapmap]
rs2617192	1.00[CEU][hapmap]
rs2625881	0.82[ASN][1000 genomes]
rs2625882	0.82[ASN][1000 genomes]
rs2625884	0.82[ASN][1000 genomes]
rs2679486	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2679488	1.00[CEU][hapmap]
rs2679493	1.00[CEU][hapmap]
rs2682682	1.00[CEU][hapmap]
rs2682683	1.00[CEU][hapmap]
rs477758	0.92[CHB][hapmap]
rs478620	1.00[CEU][hapmap];0.92[CHB][hapmap]
rs509500	0.82[ASN][1000 genomes]
rs529303	0.92[CHB][hapmap]
rs538400	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs538430	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs541856	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs560239	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs569482	0.82[ASN][1000 genomes]
rs570329	0.82[ASN][1000 genomes]
rs7298559	0.87[ASN][1000 genomes]
rs7313598	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793178	1.00[CEU][hapmap]
rs793183	1.00[CEU][hapmap]
rs793188	1.00[CEU][hapmap]
rs7962852	0.85[ASN][1000 genomes]
rs811088	1.00[CEU][hapmap]
rs973510	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:31783400-31803000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:31783400-31803000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:31789600-31803000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:31789800-31801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:31789800-31803000	Weak transcription	Adipose Nuclei	Adipose
6	chr12:31794800-31799800	Weak transcription	Fetal Kidney	kidney
7	chr12:31795400-31798000	Weak transcription	HepG2	liver
8	chr12:31797000-31800000	Enhancers	Hela-S3	cervix
9	chr12:31797200-31797400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:31797200-31797600	Enhancers	NHEK	skin
11	chr12:31797200-31798000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:31797200-31798000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:31797200-31798400	Enhancers	Pancreas	Pancrea
14	chr12:31797200-31799200	Enhancers	A549	lung
15	chr12:31797200-31800400	Enhancers	Ovary	ovary

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