Variant report

Variant	rs4611910
Chromosome Location	chr4:120058988-120058989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1033086	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1397606	1.00[ASN][1000 genomes]
rs1397612	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1511020	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17050457	1.00[JPT][hapmap]
rs2389744	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2389745	1.00[ASN][1000 genomes]
rs4263382	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301093	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4352459	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441740	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4458436	1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4834758	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4834763	1.00[ASN][1000 genomes]
rs6534129	0.87[AMR][1000 genomes]
rs6814008	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818150	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6833531	1.00[ASN][1000 genomes]
rs6853794	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668809	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7668987	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7690674	1.00[JPT][hapmap]
rs7692328	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs9991222	1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs9998382	1.00[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120055800-120061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:120056200-120061200	Enhancers	HSMM	muscle
5	chr4:120056400-120061800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:120056800-120059600	Active TSS	Fetal Muscle Trunk	muscle
7	chr4:120056800-120060200	Active TSS	Fetal Heart	heart
8	chr4:120056800-120060600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr4:120057000-120060200	Active TSS	Aorta	Aorta
10	chr4:120057000-120060800	Active TSS	Left Ventricle	heart
11	chr4:120057000-120063600	Active TSS	Right Ventricle	heart
12	chr4:120057000-120068400	Active TSS	Right Atrium	heart
13	chr4:120057200-120059600	Active TSS	Fetal Muscle Leg	muscle
14	chr4:120057200-120066600	Weak transcription	Pancreas	Pancrea
15	chr4:120057400-120060200	Weak transcription	HMEC	breast
16	chr4:120057600-120059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:120057600-120059400	Weak transcription	NHLF	lung
18	chr4:120057600-120060200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:120057600-120060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:120057600-120061000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr4:120057600-120061600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:120057800-120059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:120057800-120060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:120057800-120060200	Weak transcription	HUVEC	blood vessel
25	chr4:120057800-120060400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:120057800-120060400	Weak transcription	HepG2	liver
27	chr4:120057800-120060800	Weak transcription	A549	lung
28	chr4:120057800-120061000	Weak transcription	Psoas Muscle	Psoas
29	chr4:120058000-120059200	Weak transcription	NHDF-Ad	bronchial
30	chr4:120058000-120060000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:120058000-120061400	Enhancers	HSMMtube	muscle
32	chr4:120058400-120060400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:120058400-120060800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:120058400-120060800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:120058400-120061000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:120058400-120061000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:120058600-120059000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:120058600-120060400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr4:120058600-120060800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr4:120058600-120061200	Enhancers	Osteobl	bone
41	chr4:120058600-120061800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr4:120058800-120059000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:120058800-120061200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:120058800-120061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:120058800-120062000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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