Variant report

Variant	rs12550194
Chromosome Location	chr8:91754462-91754463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91752703..91756658-chr8:91764541..91767836,4	MCF-7	breast:
2	chr8:91658254..91660217-chr8:91752136..91754471,2	MCF-7	breast:
3	chr8:91754436..91757120-chr8:91761325..91764066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10086155	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs10808624	0.81[CEU][hapmap]
rs10808625	0.81[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap]
rs10808630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956763	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956764	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956766	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956767	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956768	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956769	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap]
rs10956775	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956777	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11990842	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542205	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542223	0.90[CHB][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542788	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12544556	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12545337	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548491	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548862	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12677100	0.85[CEU][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678287	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12680025	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265863	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1354516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394503	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1394505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1394506	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1394507	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1394509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap]
rs1463916	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1463917	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1463918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1463919	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1604915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs17645841	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1827667	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1827668	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1965369	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2339228	1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2339229	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2339230	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34883198	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35469437	0.81[EUR][1000 genomes]
rs3907704	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3913687	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236824	0.81[CHD][hapmap];0.82[GIH][hapmap]
rs4236825	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs4236826	0.81[CEU][hapmap]
rs4275197	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323436	0.81[CEU][hapmap]
rs4330649	0.81[CEU][hapmap];0.80[CHB][hapmap]
rs4330650	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs4335091	0.81[CEU][hapmap]
rs4368938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376466	0.81[CEU][hapmap]
rs4377923	0.81[CEU][hapmap]
rs4377924	0.80[CEU][hapmap]
rs4442097	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs4520126	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4531006	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4538831	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs4606020	0.81[CEU][hapmap]
rs4613959	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4637779	0.81[CEU][hapmap]
rs4734296	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735308	0.81[CEU][hapmap]
rs4735309	0.81[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap]
rs4735341	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735363	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735367	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735368	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55796168	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60187521	0.84[ASN][1000 genomes]
rs61540332	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471245	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs6471248	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471249	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993648	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs6994433	0.81[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap]
rs6997009	0.96[CEU][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6998736	0.92[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7002784	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003026	0.96[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7017405	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814682	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap]
rs7816709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs7817599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7818125	0.81[CEU][hapmap]
rs7822742	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7829728	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832679	0.81[CEU][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap]
rs7835610	0.96[CEU][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs7839617	0.81[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap]
rs7840113	0.81[CEU][hapmap]
rs7843505	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885497	0.81[CEU][hapmap]
rs9643313	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1034104	chr8:91723213-91847147	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539673	chr8:91723213-91847147	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018697	chr8:91727874-91786987	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1024671	chr8:91740552-91781241	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1033570	chr8:91740552-91786987	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1015182	chr8:91740552-91789890	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv1018024	chr8:91749316-91786987	Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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