Variant report

Variant	rs2412499
Chromosome Location	chr4:54643773-54643774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54637798..54639736-chr4:54642892..54644483,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1498830	1.00[ASN][1000 genomes]
rs2088582	0.97[ASN][1000 genomes]
rs2616431	0.94[ASN][1000 genomes]
rs2616433	0.94[ASN][1000 genomes]
rs2616434	0.92[ASN][1000 genomes]
rs4292386	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864488	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4864820	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4864822	0.83[ASN][1000 genomes]
rs59481386	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61202300	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813393	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816871	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6828755	0.96[ASN][1000 genomes]
rs6831739	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6842780	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7378471	0.98[ASN][1000 genomes]
rs7655896	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676596	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7694601	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs904414	0.85[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	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54642800-54644800	Enhancers	NHLF	lung
2	chr4:54642800-54645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:54643000-54645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:54643200-54644000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:54643200-54644000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:54643200-54644000	Enhancers	NH-A	brain
7	chr4:54643200-54644600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:54643200-54644600	Enhancers	NHEK	skin
9	chr4:54643200-54644800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:54643200-54645200	Enhancers	Osteobl	bone
11	chr4:54643400-54643800	Enhancers	Liver	Liver
12	chr4:54643400-54643800	Enhancers	Ovary	ovary
13	chr4:54643400-54643800	Enhancers	A549	lung
14	chr4:54643400-54644000	Enhancers	HSMM	muscle
15	chr4:54643400-54644200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:54643400-54644600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:54643400-54645200	Enhancers	Fetal Stomach	stomach
20	chr4:54643400-54645400	Enhancers	NHDF-Ad	bronchial
21	chr4:54643600-54644000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:54643600-54644000	Flanking Active TSS	HMEC	breast
23	chr4:54643600-54644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:54643600-54644600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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