Variant report

Variant	rs2254676
Chromosome Location	chr6:102114449-102114450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1415482	0.91[EUR][1000 genomes]
rs1856134	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2248660	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2248893	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2248984	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2518296	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2518306	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2764234	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2852564	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2852569	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7745860	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399725	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv538392	chr6:101938381-102148360	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3384771	chr6:101996253-102283808	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1032499	chr6:102069885-102720998	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv463993	chr6:102084491-102165329	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv604317	chr6:102084491-102165329	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102113600-102114800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:102113600-102117000	Enhancers	HMEC	breast
3	chr6:102113600-102117600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:102113800-102114600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:102113800-102114800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:102113800-102114800	Enhancers	NH-A	brain
7	chr6:102114000-102114600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:102114000-102114800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:102114000-102114800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:102114000-102114800	Enhancers	Hela-S3	cervix
11	chr6:102114000-102116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:102114000-102117000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:102114000-102117000	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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