Variant report

Variant	rs2471214
Chromosome Location	chr7:122260557-122260558
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	chr7:122258398..122260912-chr7:122263449..122265674,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2058443	0.82[EUR][1000 genomes]
rs2109968	0.88[CEU][hapmap]
rs2192017	0.92[CEU][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs2192024	0.85[EUR][1000 genomes]
rs2254981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2430016	0.96[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs2430017	0.88[EUR][1000 genomes]
rs2430018	0.93[EUR][1000 genomes]
rs2430020	0.92[CEU][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes]
rs2430021	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2430022	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.92[EUR][1000 genomes]
rs2430024	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.88[EUR][1000 genomes]
rs2430025	0.81[ASN][1000 genomes]
rs2430030	0.85[CEU][hapmap]
rs2430031	0.88[CEU][hapmap]
rs2430042	0.96[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs2430044	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[EUR][1000 genomes]
rs2430050	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2430053	0.92[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs2471185	0.85[EUR][1000 genomes]
rs2471187	0.84[EUR][1000 genomes]
rs2471189	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs2471190	0.92[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs2471193	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs2471195	0.89[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471196	0.89[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap]
rs2471198	0.92[EUR][1000 genomes]
rs2471199	0.96[CEU][hapmap];0.84[CHB][hapmap];0.93[EUR][1000 genomes]
rs2471203	0.93[EUR][1000 genomes]
rs2471204	0.93[EUR][1000 genomes]
rs2471207	0.92[EUR][1000 genomes]
rs2471211	0.92[EUR][1000 genomes]
rs2471215	0.84[ASN][1000 genomes]
rs2471216	0.84[ASN][1000 genomes]
rs3808171	0.82[ASN][1000 genomes]
rs4285412	0.96[CEU][hapmap];0.84[CHB][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs7789220	0.81[EUR][1000 genomes]
rs7789692	0.85[EUR][1000 genomes]
rs961628	0.83[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:122217600-122265600	Weak transcription	Aorta	Aorta
2	chr7:122251200-122261800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:122254800-122271400	Weak transcription	Left Ventricle	heart
4	chr7:122257600-122268800	Weak transcription	HepG2	liver

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