Variant report

Variant	rs4508988
Chromosome Location	chr5:54018886-54018887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54018088..54021349-chr5:54022983..54028263,5	K562	blood:
2	chr5:54017315..54018938-chr5:54030399..54032584,2	K562	blood:
3	chr5:54017504..54021673-chr5:54022029..54028384,8	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11745111	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11749269	0.82[CEU][hapmap];0.83[CHD][hapmap];0.80[MEX][hapmap]
rs36066329	0.80[ASN][1000 genomes]
rs3886214	0.88[AFR][1000 genomes]
rs4454021	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6870244	0.84[ASN][1000 genomes]
rs71600852	0.82[AFR][1000 genomes]
rs7729102	0.88[AFR][1000 genomes]
rs7730881	0.82[AFR][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	nsv526042	chr5:54017609-54018886	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
2	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle
7	chr5:54016600-54021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:54016800-54021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:54016800-54021600	Weak transcription	NH-A	brain
10	chr5:54016800-54021600	Weak transcription	NHLF	lung
11	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
12	chr5:54017600-54021600	Weak transcription	Fetal Brain Male	brain
13	chr5:54018000-54019200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:54018200-54019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:54018200-54019200	Enhancers	Osteobl	bone
16	chr5:54018400-54019400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:54018600-54019000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:54018600-54019000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:54018600-54019200	Enhancers	NHDF-Ad	bronchial
20	chr5:54018600-54021600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:54018800-54019000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:54018800-54021600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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