Variant report

Variant	rs59595173
Chromosome Location	chr5:54058727-54058728
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54053223..54055714-chr5:54058237..54060813,3	K562	blood:
2	chr5:54049724..54052539-chr5:54057510..54059343,2	K562	blood:
3	chr5:54058549..54060576-chr5:54060806..54063597,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10039924	0.88[ASN][1000 genomes]
rs10045790	0.88[ASN][1000 genomes]
rs10050561	0.86[ASN][1000 genomes]
rs10061958	0.94[ASN][1000 genomes]
rs10068073	0.89[ASN][1000 genomes]
rs10071183	0.88[ASN][1000 genomes]
rs10073662	0.88[ASN][1000 genomes]
rs10073721	0.88[ASN][1000 genomes]
rs10073837	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10434559	0.89[ASN][1000 genomes]
rs11950757	0.90[ASN][1000 genomes]
rs11959080	0.89[ASN][1000 genomes]
rs16883428	0.92[ASN][1000 genomes]
rs1867685	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242044	0.88[ASN][1000 genomes]
rs4282277	0.89[ASN][1000 genomes]
rs4292417	0.83[ASN][1000 genomes]
rs4298212	0.89[ASN][1000 genomes]
rs4356994	0.88[ASN][1000 genomes]
rs4498213	0.89[ASN][1000 genomes]
rs4515247	0.92[ASN][1000 genomes]
rs4865870	0.89[ASN][1000 genomes]
rs4865872	0.88[ASN][1000 genomes]
rs59664922	0.94[ASN][1000 genomes]
rs60548640	0.97[ASN][1000 genomes]
rs6450247	0.96[ASN][1000 genomes]
rs6450248	0.94[ASN][1000 genomes]
rs6860729	0.89[ASN][1000 genomes]
rs6863705	0.97[ASN][1000 genomes]
rs6867867	0.88[ASN][1000 genomes]
rs6892315	0.88[ASN][1000 genomes]
rs73126822	0.94[ASN][1000 genomes]
rs73126828	0.94[ASN][1000 genomes]
rs73126830	0.94[ASN][1000 genomes]
rs7709225	0.97[ASN][1000 genomes]
rs7709401	0.97[ASN][1000 genomes]
rs7726707	0.94[ASN][1000 genomes]
rs9292072	0.94[ASN][1000 genomes]
rs9292073	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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54052200-54059800	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:54052600-54058800	Enhancers	NHDF-Ad	bronchial
3	chr5:54055400-54061000	Weak transcription	Pancreas	Pancrea
4	chr5:54055600-54059600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:54056600-54060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:54057200-54059800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:54057400-54062400	Weak transcription	HMEC	breast
8	chr5:54057400-54062600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:54057800-54059800	Weak transcription	Right Atrium	heart
10	chr5:54057800-54059800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:54057800-54060400	Weak transcription	HSMM	muscle
12	chr5:54057800-54062000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:54058200-54061000	Weak transcription	Aorta	Aorta
14	chr5:54058400-54059600	Weak transcription	HSMMtube	muscle
15	chr5:54058400-54059800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:54058400-54060400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:54058600-54060000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:54058600-54060000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:54058600-54060000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:54058600-54060600	Weak transcription	NHLF	lung

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