Variant report

Variant	rs62391821
Chromosome Location	chr6:29700504-29700505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16895757	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17184661	0.86[EUR][1000 genomes]
rs2394172	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3888722	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4143366	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55661776	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55672647	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55791644	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55792521	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55884048	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55933609	0.82[EUR][1000 genomes]
rs56044823	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56101454	0.82[EUR][1000 genomes]
rs56155978	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56172386	0.82[EUR][1000 genomes]
rs56269224	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56287651	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56290866	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56392172	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391766	0.82[EUR][1000 genomes]
rs62391767	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62391768	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62391770	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62391785	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62391786	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62391801	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391819	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391822	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391833	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391835	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391842	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391843	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391844	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391850	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391851	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62394668	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62394669	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62394670	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67382831	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71550159	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv883531	chr6:29692562-29705402	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29692200-29701800	Weak transcription	HMEC	breast
2	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:29692400-29715800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:29692800-29712000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:29693200-29711400	Weak transcription	Pancreas	Pancrea
6	chr6:29693400-29715600	Weak transcription	Esophagus	oesophagus
7	chr6:29693600-29715600	Weak transcription	NHLF	lung
8	chr6:29693800-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:29693800-29715400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:29693800-29716000	Weak transcription	Small Intestine	intestine
11	chr6:29694000-29707000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:29694000-29711200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:29694000-29711400	Weak transcription	Gastric	stomach
14	chr6:29694000-29712200	Weak transcription	Aorta	Aorta
15	chr6:29694000-29715600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:29694200-29701800	Weak transcription	NHEK	skin
17	chr6:29694200-29705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:29696000-29702200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:29696000-29705600	Weak transcription	Right Ventricle	heart
20	chr6:29696000-29715600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:29696000-29715600	Weak transcription	Ovary	ovary
22	chr6:29696200-29701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:29696200-29701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:29696200-29702200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:29696200-29703800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:29696200-29703800	Weak transcription	Left Ventricle	heart
27	chr6:29696200-29705600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:29696200-29705800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:29696200-29711800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:29696200-29715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:29696200-29715600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:29696200-29715600	Weak transcription	Liver	Liver
33	chr6:29696400-29701800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:29696400-29701800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:29696400-29702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:29696400-29710800	Weak transcription	Lung	lung
37	chr6:29696400-29711400	Weak transcription	Spleen	Spleen
38	chr6:29696400-29711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:29696400-29712000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:29696400-29715400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:29696600-29700600	Weak transcription	Primary B cells from cord blood	blood
42	chr6:29696600-29702200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:29696600-29702200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:29696600-29715600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:29696800-29702000	Weak transcription	GM12878-XiMat	blood
46	chr6:29696800-29702400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:29696800-29714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:29696800-29715800	Weak transcription	Colonic Mucosa	Colon
49	chr6:29699000-29702600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:29699200-29712400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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