Variant report

Variant	rs2254981
Chromosome Location	chr7:122264761-122264762
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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs2058443	0.86[EUR][1000 genomes]
rs2109967	0.82[EUR][1000 genomes]
rs2109968	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs2192017	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2192024	0.90[EUR][1000 genomes]
rs2402618	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2430016	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2430017	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2430018	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2430020	0.96[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2430021	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2430022	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2430024	0.92[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2430025	0.86[ASN][1000 genomes]
rs2430030	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2430031	0.89[CEU][hapmap]
rs2430040	0.82[EUR][1000 genomes]
rs2430042	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2430044	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs2430050	0.91[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs2430053	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2471185	0.90[EUR][1000 genomes]
rs2471187	0.89[EUR][1000 genomes]
rs2471189	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2471190	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs2471191	0.82[EUR][1000 genomes]
rs2471193	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2471195	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2471196	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2471197	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2471198	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2471199	1.00[CEU][hapmap];0.85[CHB][hapmap];0.99[EUR][1000 genomes]
rs2471203	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2471204	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2471207	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2471211	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2471214	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]
rs2471215	0.83[ASN][1000 genomes]
rs2471216	0.83[ASN][1000 genomes]
rs3808171	0.85[ASN][1000 genomes]
rs4285412	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7789220	0.86[EUR][1000 genomes]
rs7789692	0.90[EUR][1000 genomes]
rs961628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122217600-122265600	Weak transcription	Aorta	Aorta
2	chr7:122254800-122271400	Weak transcription	Left Ventricle	heart
3	chr7:122257600-122268800	Weak transcription	HepG2	liver
4	chr7:122263000-122265400	Weak transcription	Gastric	stomach
5	chr7:122263600-122264800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:122264600-122268200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:122264600-122268400	Weak transcription	NHDF-Ad	bronchial

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