Variant report

Variant	rs6581751
Chromosome Location	chr12:67761795-67761796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10128823	1.00[EUR][1000 genomes]
rs10129028	1.00[EUR][1000 genomes]
rs11176672	1.00[EUR][1000 genomes]
rs11176676	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11176679	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176691	1.00[EUR][1000 genomes]
rs11176692	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176693	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11176715	1.00[EUR][1000 genomes]
rs11176740	1.00[EUR][1000 genomes]
rs11176784	1.00[EUR][1000 genomes]
rs11503726	1.00[EUR][1000 genomes]
rs12297966	1.00[EUR][1000 genomes]
rs12299042	1.00[EUR][1000 genomes]
rs12299097	1.00[EUR][1000 genomes]
rs12300582	1.00[EUR][1000 genomes]
rs12303089	1.00[EUR][1000 genomes]
rs12306375	1.00[EUR][1000 genomes]
rs12307363	1.00[EUR][1000 genomes]
rs12307464	1.00[EUR][1000 genomes]
rs12311491	1.00[EUR][1000 genomes]
rs12311797	1.00[EUR][1000 genomes]
rs12311840	1.00[EUR][1000 genomes]
rs12311845	1.00[EUR][1000 genomes]
rs12312040	1.00[EUR][1000 genomes]
rs12313282	1.00[EUR][1000 genomes]
rs12314503	1.00[EUR][1000 genomes]
rs12315624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318518	1.00[EUR][1000 genomes]
rs12318591	1.00[EUR][1000 genomes]
rs12318995	1.00[EUR][1000 genomes]
rs12320566	1.00[EUR][1000 genomes]
rs12321292	1.00[EUR][1000 genomes]
rs12321396	1.00[EUR][1000 genomes]
rs12322901	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17103652	0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17103772	1.00[EUR][1000 genomes]
rs17120707	1.00[EUR][1000 genomes]
rs17120710	1.00[EUR][1000 genomes]
rs4083304	1.00[EUR][1000 genomes]
rs57886620	1.00[EUR][1000 genomes]
rs61504642	1.00[EUR][1000 genomes]
rs7135195	1.00[EUR][1000 genomes]
rs7138362	1.00[EUR][1000 genomes]
rs7294827	1.00[EUR][1000 genomes]
rs7306853	1.00[EUR][1000 genomes]
rs7307643	1.00[EUR][1000 genomes]
rs7312079	1.00[EUR][1000 genomes]
rs73320752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326445	1.00[EUR][1000 genomes]
rs73326448	1.00[EUR][1000 genomes]
rs73326466	1.00[EUR][1000 genomes]
rs7954999	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7964763	1.00[EUR][1000 genomes]
rs7966031	1.00[EUR][1000 genomes]
rs7977574	1.00[EUR][1000 genomes]
rs9989007	1.00[EUR][1000 genomes]
rs9989023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67733800-67761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:67753400-67764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:67758200-67764000	Weak transcription	Fetal Lung	lung
4	chr12:67758600-67762200	Enhancers	Osteobl	bone
5	chr12:67759200-67762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:67759200-67762200	Enhancers	HSMM	muscle
7	chr12:67759400-67762400	Enhancers	HSMMtube	muscle
8	chr12:67760400-67764400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:67760600-67770200	Weak transcription	Psoas Muscle	Psoas
10	chr12:67760800-67761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:67760800-67764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:67761000-67761800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:67761000-67764000	Weak transcription	NHLF	lung
14	chr12:67761000-67764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:67761000-67764200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:67761000-67764600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:67761200-67761800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:67761600-67762000	Enhancers	NHDF-Ad	bronchial

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