Variant report

Variant	rs62391632
Chromosome Location	chr6:1958002-1958003
allele	G/T
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:30)

rs_ID	r²[population]
rs10900914	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11969985	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12524972	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12528819	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530211	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12664587	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1570537	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17134549	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17134557	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2628442	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2628443	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2628445	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2628455	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2761233	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2761235	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800136	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4512269	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56031192	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56226194	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62390680	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390682	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391624	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391626	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391627	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391628	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6914444	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916130	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72841994	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7759192	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759496	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1905000-1970600	Weak transcription	Spleen	Spleen
2	chr6:1905400-1962000	Weak transcription	Pancreas	Pancrea
3	chr6:1910200-1965800	Weak transcription	Small Intestine	intestine
4	chr6:1915800-1972800	Weak transcription	Colonic Mucosa	Colon
5	chr6:1916000-1960800	Weak transcription	Gastric	stomach
6	chr6:1919600-1962400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:1935800-1964200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:1936400-1960000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:1936800-1958400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:1937400-1961400	Weak transcription	Stomach Mucosa	stomach
11	chr6:1938200-1958400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:1940800-1967200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:1940800-1969800	Weak transcription	Lung	lung
14	chr6:1941400-1958400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:1942400-1960800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:1943600-1966000	Weak transcription	GM12878-XiMat	blood
17	chr6:1944400-1964000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:1945600-1961600	Strong transcription	HepG2	liver
19	chr6:1946000-1961000	Weak transcription	Left Ventricle	heart
20	chr6:1946000-1964000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:1947400-1980000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:1949000-1958600	Weak transcription	Esophagus	oesophagus
23	chr6:1949800-1960600	Weak transcription	Primary T cells from cord blood	blood
24	chr6:1950200-1964200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:1950200-1966400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr6:1951400-1972000	Weak transcription	Liver	Liver
27	chr6:1953000-1962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:1953200-1960000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:1953400-1959600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:1953400-1960600	Weak transcription	Fetal Intestine Large	intestine
31	chr6:1953400-1977800	Weak transcription	Fetal Intestine Small	intestine
32	chr6:1953600-1958200	Weak transcription	NHEK	skin
33	chr6:1953600-1958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:1953600-1958600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:1953600-1962000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:1953600-1963000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:1953600-1967200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:1953800-1958200	Weak transcription	HMEC	breast
39	chr6:1953800-1962400	Weak transcription	Osteobl	bone
40	chr6:1954800-1964200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:1957800-1959400	Enhancers	Dnd41	blood

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