Variant report

Variant	rs12520114
Chromosome Location	chr5:54016434-54016435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
2	chr5:54013909..54016441-chr5:54127667..54129605,2	K562	blood:
3	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
4	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10940418	0.85[ASN][1000 genomes]
rs10940419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659390	0.81[ASN][1000 genomes]
rs12659671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823053	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2034237	0.83[ASN][1000 genomes]
rs4288089	0.84[ASN][1000 genomes]
rs4342279	0.84[ASN][1000 genomes]
rs4376219	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4865585	0.85[ASN][1000 genomes]
rs4865865	0.85[ASN][1000 genomes]
rs55774545	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56341116	0.92[EUR][1000 genomes]
rs56399530	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57433496	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57534013	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57569595	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59617154	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60146924	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735895	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7736032	0.84[ASN][1000 genomes]
rs7736999	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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	nsv965525	chr5:54010194-54018240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54010600-54016600	Weak transcription	Aorta	Aorta
2	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
3	chr5:54013800-54017600	Enhancers	Fetal Brain Male	brain
4	chr5:54014200-54016600	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:54014400-54016600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:54014400-54016600	Enhancers	Left Ventricle	heart
7	chr5:54014400-54016600	Enhancers	NHDF-Ad	bronchial
8	chr5:54014400-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:54014400-54016800	Enhancers	Fetal Stomach	stomach
10	chr5:54014400-54016800	Enhancers	NH-A	brain
11	chr5:54014400-54016800	Enhancers	NHLF	lung
12	chr5:54014400-54017000	Enhancers	Fetal Muscle Leg	muscle
13	chr5:54014600-54016800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:54014600-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:54014600-54016800	Enhancers	K562	blood
16	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:54015000-54016600	Enhancers	Right Atrium	heart
18	chr5:54015600-54016600	Weak transcription	Fetal Brain Female	brain
19	chr5:54015600-54016800	Weak transcription	Right Ventricle	heart
20	chr5:54015800-54016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:54015800-54016600	Enhancers	Osteobl	bone
22	chr5:54015800-54016800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:54015800-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:54016000-54016800	Weak transcription	Ovary	ovary
27	chr5:54016000-54017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:54016200-54016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:54016200-54018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:54016400-54016600	Enhancers	Gastric	stomach
34	chr5:54016400-54016800	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:54016400-54018400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:54016400-54018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:54016400-54018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle

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