Variant report

Variant	rs7596299
Chromosome Location	chr2:189476389-189476390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189468156..189470886-chr2:189475486..189476986,2	MCF-7	breast:
2	chr2:189466156..189469106-chr2:189473632..189478313,4	MCF-7	breast:
3	chr2:189475431..189478005-chr2:189479402..189481105,2	MCF-7	breast:
4	chr2:189474730..189476735-chr2:189484207..189485935,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10199260	1.00[JPT][hapmap]
rs10804021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931369	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931376	0.88[EUR][1000 genomes]
rs11676859	0.86[EUR][1000 genomes]
rs11683089	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11683183	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695316	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11889220	0.95[EUR][1000 genomes]
rs11889402	0.81[EUR][1000 genomes]
rs12463744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12988921	0.94[EUR][1000 genomes]
rs13011602	0.88[EUR][1000 genomes]
rs13012993	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13386581	1.00[ASN][1000 genomes]
rs13386959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13393057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13396968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13397653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13412448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13413644	1.00[ASN][1000 genomes]
rs13413752	1.00[ASN][1000 genomes]
rs13414327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13418031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13424809	0.89[ASN][1000 genomes]
rs1354902	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1354904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1354908	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1354910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395868	0.88[EUR][1000 genomes]
rs1507551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1507560	0.97[EUR][1000 genomes]
rs1507561	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1567184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1580993	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911602	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1911603	0.87[EUR][1000 genomes]
rs2350903	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3935690	0.80[EUR][1000 genomes]
rs4146570	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4453658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4591284	0.96[EUR][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61045757	0.94[ASN][1000 genomes]
rs66641143	0.94[ASN][1000 genomes]
rs6707212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6708451	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6727633	0.84[ASN][1000 genomes]
rs67425558	0.84[ASN][1000 genomes]
rs6744275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6756504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7419798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7420808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7423554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7568147	0.84[ASN][1000 genomes]
rs7582643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7587596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7602180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs781261	1.00[CHB][hapmap]
rs8273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955813	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:189470800-189484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189474800-189476400	Enhancers	Ovary	ovary
3	chr2:189475000-189476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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