Variant report

Variant	rs62356469
Chromosome Location	chr5:40700587-40700588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62356463	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62356507	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62356509	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62356512	0.92[EUR][1000 genomes]
rs62358797	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3432300	chr5:40698244-40726882	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40684000-40700600	Weak transcription	Left Ventricle	heart
2	chr5:40688800-40718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:40692200-40701800	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:40692800-40700600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr5:40692800-40702400	Weak transcription	Colonic Mucosa	Colon
7	chr5:40692800-40721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:40693000-40700800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:40693000-40701800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:40693000-40701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:40693000-40702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:40693000-40702000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:40694600-40700600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:40694800-40700600	Weak transcription	HUVEC	blood vessel
18	chr5:40694800-40701600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:40694800-40701600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:40694800-40702200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:40694800-40721000	Weak transcription	Thymus	Thymus
22	chr5:40695000-40701800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:40695200-40700600	Weak transcription	Adipose Nuclei	Adipose
24	chr5:40695200-40701800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:40695200-40715800	Weak transcription	Primary B cells from cord blood	blood
26	chr5:40695200-40727000	Weak transcription	HSMM	muscle
27	chr5:40695800-40704000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:40697000-40702200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:40698800-40700800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:40699000-40720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:40699400-40701600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:40699600-40701200	Strong transcription	Dnd41	blood
33	chr5:40700000-40701600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:40700200-40700800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr5:40700200-40700800	Genic enhancers	Fetal Intestine Small	intestine
36	chr5:40700200-40701400	Enhancers	Fetal Intestine Large	intestine
37	chr5:40700400-40700600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:40700400-40700600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:40700400-40700600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:40700400-40700800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:40700400-40700800	ZNF genes & repeats	Fetal Stomach	stomach
42	chr5:40700400-40700800	ZNF genes & repeats	Gastric	stomach
43	chr5:40700400-40700800	ZNF genes & repeats	Lung	lung
44	chr5:40700400-40700800	ZNF genes & repeats	Pancreas	Pancrea
45	chr5:40700400-40700800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:40700400-40700800	ZNF genes & repeats	Spleen	Spleen
47	chr5:40700400-40701000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:40700400-40701000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:40700400-40701000	ZNF genes & repeats	Aorta	Aorta
50	chr5:40700400-40701000	ZNF genes & repeats	Esophagus	oesophagus

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