Variant report

Variant	rs700015
Chromosome Location	chr1:216396764-216396765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1066176	0.83[CHB][hapmap]
rs10864235	0.90[CEU][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap]
rs11120739	0.83[CHB][hapmap]
rs11120740	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs11120747	0.86[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs1146766	0.90[CEU][hapmap]
rs12129284	0.85[CEU][hapmap]
rs1324330	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1578245	0.86[MEX][hapmap]
rs17026208	0.83[CHB][hapmap]
rs17026219	0.83[CHB][hapmap]
rs1805049	0.88[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs2034960	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2274117	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2669057	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs301750	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs301752	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs301759	0.88[CHB][hapmap];0.89[CHD][hapmap]
rs301760	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs3754064	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3767692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3767693	0.84[CHB][hapmap]
rs378340	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs401269	0.86[JPT][hapmap]
rs407590	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap]
rs415508	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap]
rs439940	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs4971260	0.81[ASN][1000 genomes]
rs588516	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs592642	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs600535	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs62906	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs646094	0.94[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap]
rs659875	0.94[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs669616	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs677648	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs680410	0.83[CHB][hapmap]
rs696719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696720	0.90[CEU][hapmap];0.81[TSI][hapmap]
rs700021	0.90[CEU][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs700022	0.90[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs773042	0.90[CEU][hapmap]
rs773498	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs810115	0.90[CEU][hapmap]
rs9660965	0.83[CHB][hapmap]
rs9661602	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216394400-216397600	Enhancers	Fetal Heart	heart
2	chr1:216395000-216396800	Weak transcription	Right Ventricle	heart
3	chr1:216395000-216397400	Weak transcription	HepG2	liver
4	chr1:216395200-216396800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:216395200-216396800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:216395200-216396800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:216395200-216396800	Weak transcription	Fetal Stomach	stomach
8	chr1:216395200-216397000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:216395200-216401000	Weak transcription	Left Ventricle	heart
10	chr1:216395800-216397400	Weak transcription	Stomach Mucosa	stomach
11	chr1:216396400-216397600	Enhancers	Brain Germinal Matrix	brain
12	chr1:216396600-216397400	Enhancers	Fetal Lung	lung
13	chr1:216396600-216398600	Enhancers	Pancreatic Islets	Pancreatic Islet

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