Variant report

Variant	rs3886214
Chromosome Location	chr5:54018232-54018233
allele	A/G
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:
4	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10051041	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184145	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823052	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121129	0.93[ASN][1000 genomes]
rs34314188	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34607327	0.98[ASN][1000 genomes]
rs35820411	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923238	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460095	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508988	0.88[AFR][1000 genomes]
rs4596337	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356380	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71600852	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724122	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725001	0.89[ASN][1000 genomes]
rs7729102	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730881	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	nsv965525	chr5:54010194-54018240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv526042	chr5:54017609-54018886	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3886214	MOCS2	cis	cerebellum	SCAN
rs3886214	CDC20B	cis	cerebellum	SCAN
rs3886214	NDUFS4	cis	cerebellum	SCAN
rs3886214	PELO	cis	cerebellum	SCAN

Chromatin state (count:25 , 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	chr5:54016400-54018400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:54016400-54018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:54016400-54018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle
10	chr5:54016600-54018600	Weak transcription	NHDF-Ad	bronchial
11	chr5:54016600-54021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:54016800-54018600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:54016800-54021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:54016800-54021600	Weak transcription	NH-A	brain
15	chr5:54016800-54021600	Weak transcription	NHLF	lung
16	chr5:54017000-54018600	Weak transcription	Ovary	ovary
17	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
18	chr5:54017400-54018800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:54017600-54021600	Weak transcription	Fetal Brain Male	brain
20	chr5:54018000-54018400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr5:54018000-54019200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:54018200-54018600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:54018200-54018800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:54018200-54019200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:54018200-54019200	Enhancers	Osteobl	bone

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