Variant report

Variant	rs6748629
Chromosome Location	chr2:142274806-142274807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
2	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10177661	1.00[MEX][hapmap]
rs10207976	1.00[MEX][hapmap]
rs10496884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674506	1.00[CEU][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap]
rs11675776	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11685267	1.00[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap]
rs11690880	1.00[ASN][1000 genomes]
rs11695833	0.83[EUR][1000 genomes]
rs11902528	1.00[MEX][hapmap]
rs11902970	1.00[MEX][hapmap]
rs11902974	0.82[YRI][hapmap]
rs12105718	1.00[MEX][hapmap]
rs12992656	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12993733	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993821	1.00[CEU][hapmap]
rs12994255	0.83[EUR][1000 genomes]
rs13001306	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001716	1.00[JPT][hapmap]
rs13006974	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13009586	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13018345	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs13030953	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13408812	1.00[MEX][hapmap]
rs1471675	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs16846284	1.00[MEX][hapmap]
rs16846309	0.94[YRI][hapmap]
rs16846362	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs17548023	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17552442	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17616060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17734546	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17734594	0.88[GIH][hapmap]
rs17735355	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17735650	0.80[EUR][1000 genomes]
rs17735674	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs17791242	1.00[CEU][hapmap]
rs17791266	1.00[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap]
rs17791774	0.80[EUR][1000 genomes]
rs17792070	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1842932	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2890614	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs34050146	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34470585	0.82[EUR][1000 genomes]
rs34531296	1.00[ASN][1000 genomes]
rs34571231	0.94[EUR][1000 genomes]
rs35007711	0.83[EUR][1000 genomes]
rs35148968	0.80[EUR][1000 genomes]
rs35155989	0.80[EUR][1000 genomes]
rs35266942	1.00[ASN][1000 genomes]
rs35390851	1.00[ASN][1000 genomes]
rs36057199	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4328578	1.00[ASN][1000 genomes]
rs4340448	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4363970	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4588128	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4635467	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs60727330	0.82[EUR][1000 genomes]
rs6429871	1.00[MEX][hapmap]
rs6429882	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6429913	1.00[MEX][hapmap]
rs66461219	0.80[EUR][1000 genomes]
rs66741925	0.91[EUR][1000 genomes]
rs6717454	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740704	0.80[EUR][1000 genomes]
rs6741998	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6744016	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6745610	0.84[YRI][hapmap]
rs6746208	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6759190	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs73963094	0.82[EUR][1000 genomes]
rs7568338	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs7569388	1.00[MEX][hapmap];0.94[YRI][hapmap]
rs7579093	0.83[EUR][1000 genomes]
rs7579392	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7585876	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592963	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7592987	1.00[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs7595586	1.00[MEX][hapmap];0.94[YRI][hapmap]
rs7606229	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7607295	1.00[MEX][hapmap]

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	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
6	nsv583210	chr2:142259592-142295042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv459629	chr2:142263400-142295042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv583211	chr2:142263400-142295042	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv583212	chr2:142263979-142309330	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142274000-142277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:142274800-142275800	Active TSS	A549	lung
3	chr2:142274800-142275800	Enhancers	HepG2	liver

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