Variant report

Variant	rs7719575
Chromosome Location	chr5:54013113-54013114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10063480	0.82[EUR][1000 genomes]
rs11741898	0.82[EUR][1000 genomes]
rs12516090	0.82[EUR][1000 genomes]
rs12516335	0.82[EUR][1000 genomes]
rs12516850	0.82[EUR][1000 genomes]
rs12659365	0.93[ASN][1000 genomes]
rs1373990	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542165	0.92[ASN][1000 genomes]
rs1562232	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867684	0.91[ASN][1000 genomes]
rs2121132	0.82[EUR][1000 genomes]
rs3923240	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4242042	0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4282276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4286627	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4302535	0.94[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	0.94[ASN][1000 genomes]
rs4498221	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4604146	0.82[EUR][1000 genomes]
rs4624748	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4627947	0.94[ASN][1000 genomes]
rs4865582	0.94[ASN][1000 genomes]
rs4865583	0.94[ASN][1000 genomes]
rs4865584	0.94[ASN][1000 genomes]
rs4865864	0.94[ASN][1000 genomes]
rs4865866	0.94[ASN][1000 genomes]
rs4865868	0.95[EUR][1000 genomes]
rs6450239	0.94[ASN][1000 genomes]
rs6450240	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6450242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876610	0.94[ASN][1000 genomes]
rs6881842	0.82[EUR][1000 genomes]
rs6893796	0.95[EUR][1000 genomes]
rs6894873	0.94[ASN][1000 genomes]
rs7706028	0.94[ASN][1000 genomes]
rs7727742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292068	0.82[EUR][1000 genomes]
rs977207	0.82[EUR][1000 genomes]
rs977208	0.82[EUR][1000 genomes]
rs977209	0.82[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54010200-54014400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:54010600-54014200	Weak transcription	Fetal Lung	lung
3	chr5:54010600-54014400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:54010600-54014400	Weak transcription	NHLF	lung
5	chr5:54010600-54014400	Weak transcription	Osteobl	bone
6	chr5:54010600-54015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:54010600-54016600	Weak transcription	Aorta	Aorta
8	chr5:54011000-54014600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:54011400-54014400	Weak transcription	Left Ventricle	heart
10	chr5:54011400-54014600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:54011600-54014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:54011600-54014400	Weak transcription	Right Atrium	heart
13	chr5:54011600-54015000	Weak transcription	Right Ventricle	heart
14	chr5:54011600-54016400	Weak transcription	Gastric	stomach
15	chr5:54011800-54013200	Weak transcription	Fetal Heart	heart
16	chr5:54012000-54014400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:54012800-54014000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:54013000-54013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:54013000-54013600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:54013000-54013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:54013000-54014000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr5:54013000-54014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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