Variant report

Variant	rs73427457
Chromosome Location	chr6:1991593-1991594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10484947	1.00[ASN][1000 genomes]
rs10484948	1.00[ASN][1000 genomes]
rs11242727	1.00[ASN][1000 genomes]
rs11966735	1.00[ASN][1000 genomes]
rs17134626	1.00[ASN][1000 genomes]
rs17134684	1.00[ASN][1000 genomes]
rs2076854	1.00[ASN][1000 genomes]
rs28736862	1.00[ASN][1000 genomes]
rs35781270	1.00[ASN][1000 genomes]
rs56905405	1.00[ASN][1000 genomes]
rs57366578	1.00[ASN][1000 genomes]
rs58499654	1.00[ASN][1000 genomes]
rs59275343	1.00[ASN][1000 genomes]
rs59609802	1.00[ASN][1000 genomes]
rs59936111	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59952501	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61109748	1.00[ASN][1000 genomes]
rs625781	1.00[ASN][1000 genomes]
rs6930064	1.00[ASN][1000 genomes]
rs72494599	1.00[ASN][1000 genomes]
rs73410414	1.00[ASN][1000 genomes]
rs73410419	1.00[ASN][1000 genomes]
rs73410422	1.00[ASN][1000 genomes]
rs73410424	1.00[ASN][1000 genomes]
rs73410429	1.00[ASN][1000 genomes]
rs73410440	1.00[ASN][1000 genomes]
rs73410446	1.00[ASN][1000 genomes]
rs73410461	1.00[ASN][1000 genomes]
rs73412535	1.00[ASN][1000 genomes]
rs73412542	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73412553	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73414521	1.00[ASN][1000 genomes]
rs73414524	1.00[ASN][1000 genomes]
rs73414527	1.00[ASN][1000 genomes]
rs73414530	1.00[ASN][1000 genomes]
rs73414544	1.00[ASN][1000 genomes]
rs73416657	1.00[ASN][1000 genomes]
rs73416659	1.00[ASN][1000 genomes]
rs73716941	1.00[ASN][1000 genomes]
rs73716945	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1032149	chr6:1848148-2006021	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1972000-1992200	Weak transcription	Gastric	stomach
2	chr6:1979000-1991600	Weak transcription	Fetal Stomach	stomach
3	chr6:1985000-2010200	Weak transcription	Fetal Intestine Large	intestine
4	chr6:1987400-2003600	Weak transcription	Aorta	Aorta
5	chr6:1987800-1992800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:1988400-1992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:1988400-1992800	Weak transcription	Osteobl	bone
8	chr6:1988400-1993200	Weak transcription	NH-A	brain
9	chr6:1988400-1993400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:1988400-1993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:1988400-2008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:1988600-1993000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:1988600-1993000	Weak transcription	NHEK	skin
14	chr6:1988800-1992800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:1988800-1993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:1988800-1993200	Weak transcription	HMEC	breast
17	chr6:1988800-1995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:1989600-1992000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:1990000-1991800	Weak transcription	Primary T cells from cord blood	blood
20	chr6:1990200-1992000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:1990200-2008600	Weak transcription	Pancreas	Pancrea
22	chr6:1990400-2010800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:1991200-1994000	Weak transcription	Spleen	Spleen
24	chr6:1991400-1993200	Strong transcription	HepG2	liver

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