Variant report

Variant	rs12406638
Chromosome Location	chr1:215902239-215902240
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	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:
2	chr1:215896976..215899572-chr1:215900130..215902323,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10779659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10864191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120613	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.95[YRI][hapmap]
rs12092733	0.89[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap]
rs17025349	0.85[CEU][hapmap]
rs2255781	0.85[CEU][hapmap]
rs2364864	0.84[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap]
rs2488418	0.80[CEU][hapmap]
rs2797213	0.91[JPT][hapmap]
rs2797216	0.86[JPT][hapmap]
rs2797217	0.86[JPT][hapmap]
rs2797218	0.91[TSI][hapmap]
rs2797219	0.86[JPT][hapmap]
rs2797221	0.81[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2797257	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs2797259	0.89[CEU][hapmap]
rs2797260	0.91[JPT][hapmap]
rs2797261	0.90[JPT][hapmap]
rs2820708	0.91[JPT][hapmap]
rs2820709	0.86[JPT][hapmap]
rs2820710	0.88[TSI][hapmap]
rs2820715	0.91[JPT][hapmap]
rs2820716	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs2820717	0.90[JPT][hapmap]
rs2820718	0.85[TSI][hapmap]
rs4233312	1.00[ASW][hapmap];0.90[CEU][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs4330896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666832	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs6698895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7540897	0.90[CEU][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv873171	chr1:215825167-215925167	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215901400-215902400	Enhancers	Colon Smooth Muscle	Colon

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