Variant report

Variant	rs2412498
Chromosome Location	chr4:54643470-54643471
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	chr4:54637798..54639736-chr4:54642892..54644483,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1013508	0.86[ASN][1000 genomes]
rs1013509	0.86[ASN][1000 genomes]
rs11133287	0.86[ASN][1000 genomes]
rs11721806	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11723162	0.83[EUR][1000 genomes]
rs11731952	0.86[ASN][1000 genomes]
rs11734520	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12646885	0.86[ASN][1000 genomes]
rs1498815	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1498816	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1498829	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1874915	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2102011	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2412491	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412492	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412496	0.86[ASN][1000 genomes]
rs2412500	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4495107	0.81[ASN][1000 genomes]
rs4501282	0.86[ASN][1000 genomes]
rs4561980	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4864821	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56061807	0.86[ASN][1000 genomes]
rs60681996	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62297730	0.85[ASN][1000 genomes]
rs62297732	0.85[ASN][1000 genomes]
rs67780867	0.86[ASN][1000 genomes]
rs6819547	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819611	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6827313	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6834410	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6837405	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6837817	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842213	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842407	0.84[ASN][1000 genomes]
rs6843127	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6845286	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6846594	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850939	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6854881	0.81[ASN][1000 genomes]
rs6858638	0.81[ASN][1000 genomes]
rs7686706	0.86[ASN][1000 genomes]
rs7688892	0.86[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54636200-54643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:54642800-54644800	Enhancers	NHLF	lung
3	chr4:54642800-54645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:54643000-54645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:54643200-54643600	Enhancers	HepG2	liver
6	chr4:54643200-54643600	Enhancers	HMEC	breast
7	chr4:54643200-54644000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:54643200-54644000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:54643200-54644000	Enhancers	NH-A	brain
10	chr4:54643200-54644600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:54643200-54644600	Enhancers	NHEK	skin
12	chr4:54643200-54644800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:54643200-54645200	Enhancers	Osteobl	bone
14	chr4:54643400-54643800	Enhancers	Liver	Liver
15	chr4:54643400-54643800	Enhancers	Ovary	ovary
16	chr4:54643400-54643800	Enhancers	A549	lung
17	chr4:54643400-54644000	Enhancers	HSMM	muscle
18	chr4:54643400-54644200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:54643400-54644600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:54643400-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:54643400-54645200	Enhancers	Fetal Stomach	stomach
23	chr4:54643400-54645400	Enhancers	NHDF-Ad	bronchial

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