Variant report

Variant	rs2430049
Chromosome Location	chr7:122287497-122287498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12530951	0.90[JPT][hapmap]
rs12532793	0.98[ASN][1000 genomes]
rs12533063	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12538945	0.82[ASN][1000 genomes]
rs1476898	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs1544594	0.91[JPT][hapmap]
rs1544595	0.88[CEU][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs1860855	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1860857	0.82[AFR][1000 genomes]
rs2109968	0.91[JPT][hapmap]
rs2159827	0.88[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs2192017	0.83[ASW][hapmap];0.83[JPT][hapmap]
rs2192018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2192024	0.84[ASN][1000 genomes]
rs2215665	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2215668	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251761	0.88[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs2430016	0.91[JPT][hapmap]
rs2430020	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2430022	0.83[ASW][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs2430023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs2430029	0.88[EUR][1000 genomes]
rs2430030	0.91[JPT][hapmap]
rs2430031	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2430034	0.80[EUR][1000 genomes]
rs2430042	0.91[JPT][hapmap]
rs2430044	0.90[JPT][hapmap];0.96[YRI][hapmap];0.81[ASN][1000 genomes]
rs2430045	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430048	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2430050	0.81[ASN][1000 genomes]
rs2430053	0.91[JPT][hapmap]
rs2471187	0.80[ASN][1000 genomes]
rs2471189	0.88[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2471190	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2471191	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2471193	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2471194	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2471195	0.87[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2471196	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2471197	0.81[ASN][1000 genomes]
rs2471199	0.91[JPT][hapmap];1.00[YRI][hapmap]
rs2471200	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471202	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs2471206	0.86[AFR][1000 genomes]
rs2471212	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2471215	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2471216	0.83[EUR][1000 genomes]
rs4285412	0.91[JPT][hapmap]
rs7793961	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs7797968	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122269800-122288000	Weak transcription	HepG2	liver
2	chr7:122278600-122288200	Weak transcription	Gastric	stomach

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