Variant report

Variant	rs12654571
Chromosome Location	chr5:54016163-54016164
allele	C/T
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10940418	0.83[ASN][1000 genomes]
rs10940419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520114	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];0.96[ASN][1000 genomes]
rs12659671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823053	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2034237	0.81[ASN][1000 genomes]
rs4288089	0.82[ASN][1000 genomes]
rs4342279	0.82[ASN][1000 genomes]
rs4376219	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4865585	0.83[ASN][1000 genomes]
rs4865865	0.83[ASN][1000 genomes]
rs55774545	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[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];0.91[ASN][1000 genomes]
rs57534013	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57569595	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59617154	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60146924	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735895	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7736032	0.82[ASN][1000 genomes]
rs7736999	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54010600-54016600	Weak transcription	Aorta	Aorta
2	chr5:54011600-54016400	Weak transcription	Gastric	stomach
3	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
4	chr5:54013800-54017600	Enhancers	Fetal Brain Male	brain
5	chr5:54014200-54016400	Enhancers	Fetal Lung	lung
6	chr5:54014200-54016600	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:54014400-54016200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:54014400-54016200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:54014400-54016600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:54014400-54016600	Enhancers	Left Ventricle	heart
11	chr5:54014400-54016600	Enhancers	NHDF-Ad	bronchial
12	chr5:54014400-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:54014400-54016800	Enhancers	Fetal Stomach	stomach
14	chr5:54014400-54016800	Enhancers	NH-A	brain
15	chr5:54014400-54016800	Enhancers	NHLF	lung
16	chr5:54014400-54017000	Enhancers	Fetal Muscle Leg	muscle
17	chr5:54014600-54016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:54014600-54016800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:54014600-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:54014600-54016800	Enhancers	K562	blood
21	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:54014800-54016200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:54014800-54016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:54014800-54016400	Enhancers	HSMMtube	muscle
25	chr5:54015000-54016400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:54015000-54016600	Enhancers	Right Atrium	heart
27	chr5:54015600-54016600	Weak transcription	Fetal Brain Female	brain
28	chr5:54015600-54016800	Weak transcription	Right Ventricle	heart
29	chr5:54015800-54016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:54015800-54016600	Enhancers	Osteobl	bone
31	chr5:54015800-54016800	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:54015800-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:54016000-54016200	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:54016000-54016800	Weak transcription	Ovary	ovary
37	chr5:54016000-54017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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