Variant report

Variant	rs17053991
Chromosome Location	chr6:126984512-126984513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17054005	0.93[YRI][hapmap]
rs17054008	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17054016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054019	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054020	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054028	0.85[AFR][1000 genomes]
rs17054030	0.90[AFR][1000 genomes]
rs17054039	0.83[AFR][1000 genomes]
rs17054043	0.81[AFR][1000 genomes]
rs56792982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57071644	0.81[AFR][1000 genomes]
rs60985912	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61244755	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6924328	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744477	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1021636	chr6:126792916-127022489	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1026498	chr6:126812609-127397240	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830797	chr6:126923875-127100956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv886637	chr6:126927717-126985351	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126978600-126987000	Enhancers	NHDF-Ad	bronchial
2	chr6:126981800-126986600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:126981800-126987400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:126983200-126984800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:126983600-126984600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:126983800-126985000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:126983800-126985200	Enhancers	Rectal Smooth Muscle	rectum
8	chr6:126983800-126986400	Weak transcription	HSMMtube	muscle
9	chr6:126984400-126984800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:126984400-126985600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:126984400-126986000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr6:126984400-126986400	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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