Variant report

Variant	rs7689426
Chromosome Location	chr4:53874500-53874501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010254	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11133240	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13104612	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13120717	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13123449	0.93[EUR][1000 genomes]
rs1319626	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1384695	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1531836	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2170689	0.97[EUR][1000 genomes]
rs2898683	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs301089	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs301110	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs301112	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34704735	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3849652	0.80[EUR][1000 genomes]
rs403536	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6554062	0.97[EUR][1000 genomes]
rs6554063	0.94[EUR][1000 genomes]
rs6831230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6844522	0.82[EUR][1000 genomes]
rs6853639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7685087	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs958693	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53863400-53877800	Weak transcription	Gastric	stomach
2	chr4:53863400-53878000	Weak transcription	NH-A	brain
3	chr4:53863400-53878200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:53863800-53876600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:53864000-53877800	Weak transcription	NHDF-Ad	bronchial
6	chr4:53864200-53875800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:53864400-53877000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:53864400-53877600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:53864600-53876000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:53864600-53876600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:53865000-53876000	Weak transcription	Right Atrium	heart
12	chr4:53865600-53876800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:53869800-53874800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:53870600-53878200	Weak transcription	HSMM	muscle
15	chr4:53870800-53877600	Weak transcription	Osteobl	bone
16	chr4:53870800-53877800	Weak transcription	HSMMtube	muscle
17	chr4:53870800-53880200	Weak transcription	Esophagus	oesophagus
18	chr4:53871000-53876400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:53871800-53876200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:53872000-53874600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:53872400-53876000	Weak transcription	Liver	Liver
22	chr4:53873000-53875000	Weak transcription	HepG2	liver
23	chr4:53873000-53876000	Weak transcription	Right Ventricle	heart
24	chr4:53873000-53876400	Weak transcription	Fetal Heart	heart
25	chr4:53873200-53877800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:53873200-53877800	Weak transcription	Psoas Muscle	Psoas
27	chr4:53873200-53877800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:53873200-53880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:53873400-53875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:53873400-53875800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:53873400-53876000	Weak transcription	Pancreas	Pancrea
32	chr4:53873400-53876600	Weak transcription	Lung	lung
33	chr4:53873400-53886800	Weak transcription	Left Ventricle	heart
34	chr4:53873600-53876000	Weak transcription	Fetal Thymus	thymus
35	chr4:53873800-53874600	Strong transcription	Primary T cells from cord blood	blood
36	chr4:53873800-53874600	Enhancers	Spleen	Spleen
37	chr4:53873800-53877600	Weak transcription	Dnd41	blood
38	chr4:53874000-53874600	Enhancers	Ovary	ovary
39	chr4:53874000-53877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:53874000-53879800	Enhancers	Fetal Lung	lung
41	chr4:53874000-53882200	Enhancers	Fetal Kidney	kidney
42	chr4:53874200-53879200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:53874400-53875000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:53874400-53876800	Weak transcription	Primary hematopoietic stem cells	blood

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