Variant report

Variant	rs12617330
Chromosome Location	chr2:210241149-210241150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10153809	0.93[ASN][1000 genomes]
rs10174291	0.93[ASN][1000 genomes]
rs10182475	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10185216	0.84[ASN][1000 genomes]
rs10200389	0.93[ASN][1000 genomes]
rs10200539	0.93[ASN][1000 genomes]
rs10210266	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10932297	0.98[ASN][1000 genomes]
rs10932301	0.93[ASN][1000 genomes]
rs11678209	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11885999	0.91[CEU][hapmap]
rs11889366	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11900413	0.99[ASN][1000 genomes]
rs11904626	0.93[ASN][1000 genomes]
rs12613165	1.00[JPT][hapmap]
rs12614926	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12614974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12621534	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622130	1.00[ASN][1000 genomes]
rs12623404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12623555	0.99[ASN][1000 genomes]
rs12694180	0.98[ASN][1000 genomes]
rs13005529	0.98[ASN][1000 genomes]
rs13023264	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13024490	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028173	1.00[ASN][1000 genomes]
rs13028553	1.00[ASN][1000 genomes]
rs13033819	0.90[ASN][1000 genomes]
rs13034750	0.91[ASN][1000 genomes]
rs13391766	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13391768	0.95[ASN][1000 genomes]
rs1374333	1.00[ASN][1000 genomes]
rs1446593	1.00[JPT][hapmap]
rs1446596	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16842875	1.00[ASN][1000 genomes]
rs16842884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843022	1.00[CEU][hapmap]
rs169636	0.82[CEU][hapmap]
rs17236116	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2028893	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2123701	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28556312	0.93[ASN][1000 genomes]
rs28558587	0.88[ASN][1000 genomes]
rs28610349	0.93[ASN][1000 genomes]
rs288070	0.82[CEU][hapmap]
rs288071	0.82[CEU][hapmap]
rs288079	0.83[CEU][hapmap]
rs288081	0.82[CEU][hapmap]
rs288087	0.83[CEU][hapmap]
rs288094	0.82[CEU][hapmap]
rs288096	0.82[CEU][hapmap]
rs35424736	0.87[ASN][1000 genomes]
rs60358187	0.94[ASN][1000 genomes]
rs6435528	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6435529	0.93[ASN][1000 genomes]
rs6733750	0.98[ASN][1000 genomes]
rs6751612	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6761283	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72492734	0.87[ASN][1000 genomes]
rs72995681	0.93[ASN][1000 genomes]
rs73060566	0.87[ASN][1000 genomes]
rs7557610	1.00[ASN][1000 genomes]
rs7563521	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7568431	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7568858	1.00[ASN][1000 genomes]
rs7569773	0.93[ASN][1000 genomes]
rs7575409	1.00[ASN][1000 genomes]
rs7577392	0.99[ASN][1000 genomes]
rs7580512	0.91[CEU][hapmap]
rs7580883	0.84[ASN][1000 genomes]
rs7593008	0.84[ASN][1000 genomes]
rs7594469	0.87[ASN][1000 genomes]
rs7594842	0.93[ASN][1000 genomes]
rs7595924	0.93[ASN][1000 genomes]
rs7602104	1.00[ASN][1000 genomes]
rs7608377	0.98[ASN][1000 genomes]
rs7608854	0.93[ASN][1000 genomes]
rs9288407	0.98[ASN][1000 genomes]
rs992028	0.93[ASN][1000 genomes]
rs993784	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9967799	0.95[ASN][1000 genomes]

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	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr2:210234000-210242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:210239200-210241200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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