Variant report

Variant	rs6582676
Chromosome Location	chr12:47162957-47162958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161209	0.85[CHB][hapmap]
rs11183610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12301214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12307687	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17097091	0.85[CHB][hapmap]
rs17097141	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17097246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17097332	0.85[CHB][hapmap]
rs180431	0.82[AMR][1000 genomes]
rs2287470	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2897979	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4768746	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4768747	0.92[AMR][1000 genomes]
rs4768749	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4768758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57349356	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7955364	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7971812	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7979449	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]

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	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
2	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
3	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
4	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47149600-47165400	Weak transcription	Pancreas	Pancrea
2	chr12:47157400-47172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:47159400-47164200	Strong transcription	Liver	Liver
4	chr12:47160000-47163400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:47160400-47163400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:47160600-47164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:47161600-47163000	Strong transcription	HSMM	muscle
8	chr12:47161600-47173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:47161800-47163000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:47161800-47165200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:47162600-47163200	Enhancers	Psoas Muscle	Psoas

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