Variant report

Variant	rs4286627
Chromosome Location	chr5:54016331-54016332
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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11741898	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12516090	0.82[EUR][1000 genomes]
rs12516335	0.82[EUR][1000 genomes]
rs12516850	0.82[EUR][1000 genomes]
rs12659365	0.83[ASN][1000 genomes]
rs13164810	0.89[ASN][1000 genomes]
rs1373990	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1542165	0.82[ASN][1000 genomes]
rs1562232	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1823055	0.89[ASN][1000 genomes]
rs1867684	0.81[ASN][1000 genomes]
rs2121132	0.82[EUR][1000 genomes]
rs35429219	0.88[ASN][1000 genomes]
rs3923240	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4242042	0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs4282276	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4302535	0.84[ASN][1000 genomes]
rs4348178	0.82[EUR][1000 genomes]
rs4353983	0.82[EUR][1000 genomes]
rs4353984	0.82[EUR][1000 genomes]
rs4359998	0.82[EUR][1000 genomes]
rs4429808	0.84[ASN][1000 genomes]
rs4498221	0.91[ASN][1000 genomes]
rs4562000	0.89[ASN][1000 genomes]
rs4604146	0.82[EUR][1000 genomes]
rs4624748	0.91[ASN][1000 genomes]
rs4627947	0.84[ASN][1000 genomes]
rs4865582	0.84[ASN][1000 genomes]
rs4865583	0.84[ASN][1000 genomes]
rs4865584	0.84[ASN][1000 genomes]
rs4865864	0.84[ASN][1000 genomes]
rs4865866	0.84[ASN][1000 genomes]
rs4865868	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56046642	0.89[ASN][1000 genomes]
rs6450239	0.84[ASN][1000 genomes]
rs6450240	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6450242	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6450243	0.86[ASN][1000 genomes]
rs6876610	0.84[ASN][1000 genomes]
rs6881842	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6893796	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6894873	0.84[ASN][1000 genomes]
rs6899028	0.81[AMR][1000 genomes]
rs7706028	0.84[ASN][1000 genomes]
rs7719575	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727742	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292068	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs977207	0.82[EUR][1000 genomes]
rs977208	0.82[EUR][1000 genomes]
rs977209	0.81[EUR][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:39 , 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	chr5:54014400-54016600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:54014400-54016600	Enhancers	Left Ventricle	heart
9	chr5:54014400-54016600	Enhancers	NHDF-Ad	bronchial
10	chr5:54014400-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:54014400-54016800	Enhancers	Fetal Stomach	stomach
12	chr5:54014400-54016800	Enhancers	NH-A	brain
13	chr5:54014400-54016800	Enhancers	NHLF	lung
14	chr5:54014400-54017000	Enhancers	Fetal Muscle Leg	muscle
15	chr5:54014600-54016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:54014600-54016800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:54014600-54016800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:54014600-54016800	Enhancers	K562	blood
19	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:54014800-54016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:54014800-54016400	Enhancers	HSMMtube	muscle
22	chr5:54015000-54016400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:54015000-54016600	Enhancers	Right Atrium	heart
24	chr5:54015600-54016600	Weak transcription	Fetal Brain Female	brain
25	chr5:54015600-54016800	Weak transcription	Right Ventricle	heart
26	chr5:54015800-54016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:54015800-54016600	Enhancers	Osteobl	bone
28	chr5:54015800-54016800	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:54015800-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:54016000-54016800	Weak transcription	Ovary	ovary
33	chr5:54016000-54017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:54016200-54016400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:54016200-54016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:54016200-54018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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