Variant report

Variant	rs12645847
Chromosome Location	chr4:54631823-54631824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54631461..54634039-chr4:54637339..54639127,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11133286	0.95[ASN][1000 genomes]
rs11133288	0.96[ASN][1000 genomes]
rs11726943	0.92[ASN][1000 genomes]
rs2590764	0.85[ASN][1000 genomes]
rs2590765	0.85[ASN][1000 genomes]
rs2590766	0.85[ASN][1000 genomes]
rs2616432	0.85[ASN][1000 genomes]
rs4305579	0.92[ASN][1000 genomes]
rs55705508	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829218	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6851383	0.94[ASN][1000 genomes]
rs7699690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs872968	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:54629600-54632000	Enhancers	Fetal Stomach	stomach
4	chr4:54630200-54632200	Enhancers	Fetal Kidney	kidney
5	chr4:54630400-54632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:54630600-54632400	Weak transcription	HMEC	breast
7	chr4:54630800-54634000	Enhancers	NHLF	lung
8	chr4:54630800-54635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:54630800-54635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:54631000-54632000	Enhancers	GM12878-XiMat	blood
11	chr4:54631000-54633000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:54631000-54635800	Enhancers	Osteobl	bone
13	chr4:54631200-54632000	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:54631600-54633400	Weak transcription	HSMMtube	muscle
15	chr4:54631600-54636200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:54631800-54632600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:54631800-54632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:54631800-54633400	Weak transcription	HSMM	muscle
19	chr4:54631800-54633600	Weak transcription	Ovary	ovary
20	chr4:54631800-54633800	Weak transcription	NH-A	brain
21	chr4:54631800-54635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:54631800-54635800	Enhancers	NHDF-Ad	bronchial
23	chr4:54631800-54637200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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