Variant report

Variant	rs6899028
Chromosome Location	chr5:54048471-54048472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54044930..54047645-chr5:54048300..54051015,2	K562	blood:
2	chr5:54047842..54051825-chr5:54059537..54062884,3	K562	blood:
3	chr5:54048212..54050692-chr5:54052944..54054677,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10077227	0.94[ASN][1000 genomes]
rs10077228	0.94[ASN][1000 genomes]
rs10940420	0.92[ASN][1000 genomes]
rs10940421	0.91[ASN][1000 genomes]
rs11741898	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520102	0.90[ASN][1000 genomes]
rs13180905	0.99[ASN][1000 genomes]
rs1445837	0.99[ASN][1000 genomes]
rs1445838	0.99[ASN][1000 genomes]
rs1445839	0.99[ASN][1000 genomes]
rs1562232	0.83[AMR][1000 genomes]
rs1867687	0.99[ASN][1000 genomes]
rs35207106	0.90[ASN][1000 genomes]
rs3923240	0.84[AMR][1000 genomes]
rs4242043	0.90[ASN][1000 genomes]
rs4286627	0.81[AMR][1000 genomes]
rs4367251	0.89[ASN][1000 genomes]
rs4367252	0.90[ASN][1000 genomes]
rs4367253	0.90[ASN][1000 genomes]
rs4410612	0.91[ASN][1000 genomes]
rs4419552	0.93[ASN][1000 genomes]
rs4487449	0.93[ASN][1000 genomes]
rs4541609	0.89[ASN][1000 genomes]
rs4596333	0.90[ASN][1000 genomes]
rs4639171	0.90[ASN][1000 genomes]
rs4639172	0.93[ASN][1000 genomes]
rs6872707	0.99[ASN][1000 genomes]
rs6881842	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6893796	0.80[AMR][1000 genomes]
rs7701622	0.95[ASN][1000 genomes]
rs7735360	0.95[ASN][1000 genomes]
rs7735378	0.95[ASN][1000 genomes]
rs7736184	0.88[ASN][1000 genomes]
rs895329	0.90[ASN][1000 genomes]
rs9292068	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54040600-54050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:54040600-54052400	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:54041200-54051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:54041400-54048600	Weak transcription	HSMMtube	muscle
5	chr5:54041600-54048800	Weak transcription	NHLF	lung
6	chr5:54041800-54048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:54041800-54048800	Weak transcription	Fetal Heart	heart
8	chr5:54041800-54052000	Weak transcription	Placenta	Placenta
9	chr5:54041800-54052200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:54042600-54053800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:54044800-54051800	Weak transcription	K562	blood
12	chr5:54044800-54056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:54047400-54049000	Weak transcription	Esophagus	oesophagus
14	chr5:54047600-54048600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:54047600-54048600	Weak transcription	Right Atrium	heart
16	chr5:54047600-54049600	Enhancers	Primary B cells from cord blood	blood
17	chr5:54047600-54049600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:54047800-54048600	Weak transcription	NHDF-Ad	bronchial
19	chr5:54048400-54048600	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:54048400-54048600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr5:54048400-54048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:54048400-54048600	Enhancers	GM12878-XiMat	blood
23	chr5:54048400-54049000	Enhancers	Primary hematopoietic stem cells	blood

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