Variant report

Variant	rs1375606
Chromosome Location	chr2:142834118-142834119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142832252..142835067-chr2:142835097..142836717,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1011862	0.90[ASN][1000 genomes]
rs10173643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10179841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap]
rs10186258	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10190170	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap]
rs10203924	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10496912	1.00[CEU][hapmap]
rs10496913	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs10803489	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10928134	0.85[CHB][hapmap]
rs11680286	0.81[CHB][hapmap]
rs11683745	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11691560	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs11691595	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs12105584	0.82[CHB][hapmap]
rs12470890	0.95[CHB][hapmap];1.00[YRI][hapmap]
rs12613064	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12613097	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12619411	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13000270	0.84[ASN][1000 genomes]
rs13429550	1.00[CEU][hapmap]
rs1349219	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1349220	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1349221	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1375603	0.82[CHB][hapmap]
rs1375609	0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1375611	0.84[CHB][hapmap]
rs1449475	0.81[ASN][1000 genomes]
rs1449476	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs1449477	0.80[CHB][hapmap]
rs1449478	0.81[CHB][hapmap]
rs1449479	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1449480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1449481	0.84[ASN][1000 genomes]
rs1449499	0.81[CHB][hapmap]
rs1449501	0.81[CHB][hapmap]
rs1449503	0.85[CHB][hapmap]
rs16848074	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16848107	1.00[CEU][hapmap]
rs17826042	1.00[CEU][hapmap]
rs1868542	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs1900933	0.81[CHB][hapmap]
rs1900934	0.82[CHB][hapmap]
rs1900935	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1900936	0.85[CHB][hapmap]
rs2029142	0.81[CHB][hapmap]
rs2167053	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2218734	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2290140	0.84[CHB][hapmap]
rs4550611	0.91[EUR][1000 genomes]
rs4662219	0.89[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs4662370	0.85[CHB][hapmap]
rs4662373	0.84[ASN][1000 genomes]
rs4662389	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56217570	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6712994	0.87[ASN][1000 genomes]
rs6744928	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6754907	0.82[ASN][1000 genomes]
rs72851467	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs736602	0.95[CHB][hapmap]
rs7565655	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7581031	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs7586417	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7608258	0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs7609479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287332	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs957376	0.81[CHB][hapmap]
rs970600	1.00[CEU][hapmap]
rs970601	1.00[CEU][hapmap]
rs980178	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs993935	0.82[CHB][hapmap]
rs997123	0.82[ASN][1000 genomes]
rs9973706	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530398	chr2:142474842-142843839	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875253	chr2:142805006-142855291	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142829400-142838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:142833400-142834400	Enhancers	Brain Substantia Nigra	brain
3	chr2:142833600-142834200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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