Variant report

Variant	rs17083272
Chromosome Location	chr4:54542565-54542566
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	chr4:54538463..54540033-chr4:54542126..54544884,2	K562	blood:
2	chr4:54537947..54540033-chr4:54541498..54544884,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10006267	0.83[AMR][1000 genomes]
rs10010205	0.80[AMR][1000 genomes]
rs10021678	0.80[AMR][1000 genomes]
rs10027185	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10027544	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10031525	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10031866	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1039985	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12645402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13146347	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13148245	0.86[AMR][1000 genomes]
rs1477878	1.00[ASN][1000 genomes]
rs1477880	0.99[ASN][1000 genomes]
rs17083218	0.81[AMR][1000 genomes]
rs17083277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991972	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1991973	0.84[ASN][1000 genomes]
rs2086048	0.94[ASN][1000 genomes]
rs2219742	1.00[ASN][1000 genomes]
rs28678201	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3942650	0.84[ASN][1000 genomes]
rs4864809	0.87[ASN][1000 genomes]
rs6554120	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554121	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6816209	0.87[ASN][1000 genomes]
rs6818959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6822736	0.92[ASN][1000 genomes]
rs6843799	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6849381	0.93[ASN][1000 genomes]
rs6858782	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs750695	0.86[ASN][1000 genomes]
rs7688605	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3449865	chr4:54541828-54543952	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv15022	chr4:54541987-54543303	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54541200-54543000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:54542200-54543200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:54542200-54543400	Enhancers	Adipose Nuclei	Adipose
4	chr4:54542200-54543400	Enhancers	Ovary	ovary
5	chr4:54542200-54543400	Enhancers	NHLF	lung
6	chr4:54542200-54543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:54542200-54543600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:54542200-54543800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr4:54542200-54543800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:54542400-54543000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:54542400-54543200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:54542400-54543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:54542400-54543400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:54542400-54543400	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:54542400-54543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:54542400-54543400	Enhancers	Liver	Liver
17	chr4:54542400-54543400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:54542400-54543400	Enhancers	Osteobl	bone

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