Variant report

Variant	rs2022612
Chromosome Location	chr6:132320742-132320743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17060966	1.00[EUR][1000 genomes]
rs17061007	1.00[EUR][1000 genomes]
rs2327193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55742557	1.00[EUR][1000 genomes]
rs57075525	1.00[EUR][1000 genomes]
rs58299965	1.00[EUR][1000 genomes]
rs58884491	1.00[EUR][1000 genomes]
rs61085013	1.00[EUR][1000 genomes]
rs6906828	1.00[EUR][1000 genomes]
rs6909873	1.00[EUR][1000 genomes]
rs73543504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543511	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543545	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543554	1.00[EUR][1000 genomes]
rs73543593	1.00[EUR][1000 genomes]
rs73545551	1.00[EUR][1000 genomes]
rs73545576	1.00[EUR][1000 genomes]
rs73545600	1.00[EUR][1000 genomes]
rs73547580	1.00[EUR][1000 genomes]
rs73547586	1.00[EUR][1000 genomes]
rs73547600	1.00[EUR][1000 genomes]
rs73779148	1.00[EUR][1000 genomes]
rs9321316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs957535	0.83[AMR][1000 genomes]
rs9885614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv970350	chr6:132317890-132327515	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3446156	chr6:132320428-132320827	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132306200-132321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:132317600-132324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:132318600-132320800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:132318800-132320800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:132318800-132324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:132319200-132320800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr6:132319400-132321800	Enhancers	Fetal Heart	heart
8	chr6:132319600-132320800	Enhancers	HSMMtube	muscle
9	chr6:132319800-132320800	Enhancers	HSMM	muscle
10	chr6:132320000-132320800	Enhancers	Fetal Stomach	stomach
11	chr6:132320000-132321200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:132320000-132321800	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:132320000-132321800	Weak transcription	Aorta	Aorta
14	chr6:132320000-132324400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:132320200-132321000	Weak transcription	NHDF-Ad	bronchial
16	chr6:132320400-132320800	Enhancers	Primary B cells from cord blood	blood
17	chr6:132320400-132321400	Weak transcription	Brain Substantia Nigra	brain
18	chr6:132320600-132320800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:132320600-132320800	Enhancers	Left Ventricle	heart
20	chr6:132320600-132321000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:132320600-132321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:132320600-132321400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:132320600-132321600	Enhancers	Rectal Smooth Muscle	rectum

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