Variant report

Variant	rs71600496
Chromosome Location	chr4:121631056-121631057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11721741	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11721810	0.86[ASN][1000 genomes]
rs11721869	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730092	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732068	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11732180	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11736461	0.92[ASN][1000 genomes]
rs13110077	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13145830	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1397775	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17345994	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34414268	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34616798	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34631575	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34709185	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35021943	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35349319	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35418908	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35445561	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35576528	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35588958	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36003774	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833668	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6841589	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71600494	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71600495	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71600499	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71600500	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121620800-121637600	Weak transcription	Psoas Muscle	Psoas
2	chr4:121620800-121654400	Weak transcription	Left Ventricle	heart
3	chr4:121620800-121671400	Weak transcription	Pancreas	Pancrea
4	chr4:121625600-121657600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:121626000-121658200	Weak transcription	Aorta	Aorta
6	chr4:121626800-121631400	Weak transcription	Right Ventricle	heart
7	chr4:121629600-121643400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:121630000-121671400	Weak transcription	Ovary	ovary
9	chr4:121630200-121631600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:121630200-121631800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:121630400-121631600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:121630400-121631600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:121630400-121631600	Enhancers	NHDF-Ad	bronchial
14	chr4:121630600-121631200	Enhancers	Fetal Lung	lung
15	chr4:121630600-121631600	Enhancers	Fetal Heart	heart
16	chr4:121630600-121631600	Enhancers	Osteobl	bone
17	chr4:121630600-121631800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:121630800-121631400	Enhancers	Colon Smooth Muscle	Colon
19	chr4:121630800-121631600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:121630800-121631600	Enhancers	HSMMtube	muscle
21	chr4:121631000-121631400	Enhancers	Fetal Kidney	kidney
22	chr4:121631000-121631600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:121631000-121631600	Enhancers	HSMM	muscle
24	chr4:121631000-121631600	Enhancers	NHEK	skin
25	chr4:121631000-121631600	Enhancers	NHLF	lung

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