Variant report

Variant	rs60021834
Chromosome Location	chr6:45598672-45598673
allele	C/T
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:21)

rs_ID	r²[population]
rs56125920	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57847751	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58033063	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58899441	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59086975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59194849	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60089305	0.88[ASN][1000 genomes]
rs60365641	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60499694	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60653179	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60902957	0.88[ASN][1000 genomes]
rs61046945	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61433014	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61735894	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61735906	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73444596	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73446524	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73735415	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73735416	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73738524	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976319	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45588600-45601000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:45594200-45604400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:45594800-45599200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:45595000-45607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:45595200-45598800	Weak transcription	HMEC	breast
6	chr6:45595200-45598800	Weak transcription	NHEK	skin
7	chr6:45596600-45601200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:45596800-45601200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:45597200-45599000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:45597600-45599400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:45597800-45599400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:45597800-45599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:45597800-45599800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:45598000-45598800	Enhancers	NHLF	lung
15	chr6:45598000-45599200	Enhancers	NHDF-Ad	bronchial
16	chr6:45598200-45599000	Enhancers	Ovary	ovary
17	chr6:45598200-45599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:45598200-45599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:45598200-45599400	Enhancers	Osteobl	bone
20	chr6:45598400-45598800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:45598400-45599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:45598600-45599200	Enhancers	Hela-S3	cervix
23	chr6:45598600-45600200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr6:45598600-45602000	Weak transcription	Pancreas	Pancrea
25	chr6:45598600-45605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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