Variant report

Variant	rs28607791
Chromosome Location	chr4:125860546-125860547
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:21)

rs_ID	r²[population]
rs10022194	0.81[AMR][1000 genomes]
rs10031287	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1021628	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11722357	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11729566	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11729651	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11732928	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11945096	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483592	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483599	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483601	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1553093	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1553094	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1553095	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1564721	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17184111	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17788496	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28477204	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824446	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72920861	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7695258	0.85[EUR][1000 genomes];0.81[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	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125844800-125860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125856200-125860600	Enhancers	Fetal Muscle Leg	muscle
3	chr4:125856200-125866800	Enhancers	Hela-S3	cervix
4	chr4:125856600-125860600	Weak transcription	Right Ventricle	heart
5	chr4:125857600-125862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:125857800-125861400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:125858000-125860800	Weak transcription	NH-A	brain
8	chr4:125858000-125861200	Weak transcription	Adipose Nuclei	Adipose
9	chr4:125858000-125861400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:125858000-125865000	Weak transcription	Ovary	ovary
11	chr4:125858000-125868000	Weak transcription	Pancreas	Pancrea
12	chr4:125858200-125861400	Weak transcription	Stomach Mucosa	stomach
13	chr4:125858200-125867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:125858600-125861000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:125859000-125861200	Weak transcription	Fetal Stomach	stomach
16	chr4:125859000-125861600	Weak transcription	Fetal Kidney	kidney
17	chr4:125859200-125861200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:125859200-125862800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:125859200-125862800	Enhancers	NHDF-Ad	bronchial
20	chr4:125859200-125863200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:125859400-125861600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:125859400-125862400	Enhancers	HSMM	muscle
23	chr4:125859400-125862800	Enhancers	Osteobl	bone
24	chr4:125859400-125863000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:125859400-125870200	Weak transcription	Psoas Muscle	Psoas
26	chr4:125859600-125861200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:125859600-125861200	Weak transcription	HSMMtube	muscle
28	chr4:125859600-125862600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:125859800-125861000	Weak transcription	Fetal Heart	heart
30	chr4:125860000-125863800	Enhancers	HUVEC	blood vessel
31	chr4:125860200-125860600	Enhancers	Gastric	stomach
32	chr4:125860200-125861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:125860200-125862800	Enhancers	NHLF	lung
34	chr4:125860200-125863000	Enhancers	HMEC	breast
35	chr4:125860400-125860600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:125860400-125860600	Enhancers	Esophagus	oesophagus
37	chr4:125860400-125860600	Enhancers	Left Ventricle	heart
38	chr4:125860400-125860600	Enhancers	Lung	lung
39	chr4:125860400-125860600	Enhancers	Right Atrium	heart
40	chr4:125860400-125860800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:125860400-125861200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:125860400-125862600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:125860400-125863000	Enhancers	NHEK	skin

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