Variant report

Variant	rs1492892
Chromosome Location	chr12:46691487-46691488
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46691473..46694369-chr12:46765208..46767596,2	MCF-7	breast:
2	chr12:46668428..46670420-chr12:46691301..46693248,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10467213	0.87[EUR][1000 genomes]
rs1060735	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1079780	0.81[EUR][1000 genomes]
rs10880947	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880953	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10880959	0.80[EUR][1000 genomes]
rs11183420	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11183441	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11504511	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298619	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12302984	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12310125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311507	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12317787	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12320197	0.89[CHD][hapmap]
rs12580583	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12816358	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12816413	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471223	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1492894	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1586905	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2045556	0.82[AMR][1000 genomes]
rs2087834	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2169030	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2172398	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242355	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2279560	0.87[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2307061	0.80[EUR][1000 genomes]
rs2408496	0.81[EUR][1000 genomes]
rs2408504	0.88[EUR][1000 genomes]
rs2408505	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2408506	0.85[EUR][1000 genomes]
rs2408508	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2897968	0.90[MEX][hapmap];0.92[TSI][hapmap]
rs34119192	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35123676	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35497251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782904	0.88[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs4238102	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4438106	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4547171	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4586238	0.87[EUR][1000 genomes]
rs4768110	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768111	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768113	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768115	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768116	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768694	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768695	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768696	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4768698	0.88[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs59919892	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582625	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7132228	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7134855	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297536	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7310869	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314069	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315493	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7316127	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7316773	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953659	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958774	0.87[EUR][1000 genomes]
rs7960147	0.88[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs7961994	0.88[CEU][hapmap]
rs7965629	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7966288	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7967669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7968173	0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs7968283	0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs7970911	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7974529	0.88[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs7976362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979418	0.90[MEX][hapmap];0.89[TSI][hapmap]
rs7979514	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7980775	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs898242	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs956910	0.88[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs9669051	0.81[EUR][1000 genomes]
rs9669381	0.80[EUR][1000 genomes]
rs9795971	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46690800-46693200	Weak transcription	Right Ventricle	heart
2	chr12:46691000-46693000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:46691000-46693400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:46691000-46693600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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