Variant report

Variant	rs62305886
Chromosome Location	chr4:101990318-101990319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1358312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1358313	0.83[ASN][1000 genomes]
rs17124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037773	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28488364	0.91[ASN][1000 genomes]
rs34422081	0.91[ASN][1000 genomes]
rs41498549	0.91[ASN][1000 genomes]
rs55792312	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58457068	0.89[AMR][1000 genomes]
rs58656951	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62305883	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305884	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305887	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850799	0.83[ASN][1000 genomes]
rs6851231	0.83[ASN][1000 genomes]
rs72929311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs952506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879669	chr4:101989816-102040091	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879670	chr4:101989816-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
6	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
7	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:101953600-101992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:101959600-101990600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:101959600-102003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:101960800-101995000	Weak transcription	HSMM	muscle
14	chr4:101960800-102004000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:101960800-102004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:101961000-102024600	Weak transcription	NHEK	skin
18	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
19	chr4:101961600-101995200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:101962200-102000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:101966600-102003000	Weak transcription	Primary T cells from cord blood	blood
22	chr4:101966600-102007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:101966800-101992200	Weak transcription	Ovary	ovary
24	chr4:101966800-102007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:101971800-102000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:101978000-101997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
28	chr4:101978200-102002600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:101978400-102023000	Weak transcription	NHLF	lung
30	chr4:101979400-101997200	Weak transcription	Liver	Liver
31	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
32	chr4:101980800-102004600	Strong transcription	Primary B cells from cord blood	blood
33	chr4:101981600-102010600	Weak transcription	Aorta	Aorta
34	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:101982000-101995200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:101982000-102023000	Weak transcription	Osteobl	bone
37	chr4:101982200-102005200	Weak transcription	A549	lung
38	chr4:101982400-101990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:101982400-101994800	Weak transcription	HMEC	breast
40	chr4:101982400-101996200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:101982400-102002000	Weak transcription	Dnd41	blood
42	chr4:101982400-102003200	Weak transcription	Adipose Nuclei	Adipose
43	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:101982600-101992200	Weak transcription	NH-A	brain
45	chr4:101984600-102003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:101984800-101994600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:101985600-101996200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:101986000-102010200	Weak transcription	Psoas Muscle	Psoas
49	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
50	chr4:101986400-101990400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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