Variant report

Variant	rs1001471
Chromosome Location	chr2:56498664-56498665
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	chr2:56497998..56500277-chr2:56521559..56523561,2	MCF-7	breast:
2	chr2:56493299..56495631-chr2:56495862..56498685,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10188465	0.85[JPT][hapmap]
rs10490397	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10490400	0.92[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10490401	0.92[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11125618	0.85[JPT][hapmap]
rs12613716	0.90[JPT][hapmap]
rs12623053	0.85[JPT][hapmap]
rs12623278	0.90[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12713316	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12993884	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12994087	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12996636	1.00[ASW][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13003301	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13004757	0.95[JPT][hapmap];0.84[MEX][hapmap]
rs13012528	1.00[ASW][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13016868	0.95[JPT][hapmap];0.84[MEX][hapmap]
rs13025817	0.95[JPT][hapmap]
rs13403828	0.90[JPT][hapmap]
rs13429808	0.90[JPT][hapmap]
rs1468914	0.85[JPT][hapmap]
rs17047656	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17047684	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17047705	0.85[JPT][hapmap]
rs2111476	0.84[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2193485	0.95[JPT][hapmap]
rs2216332	0.95[JPT][hapmap];0.89[MEX][hapmap]
rs35637593	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57041406	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6730327	0.85[JPT][hapmap]
rs7563888	0.90[JPT][hapmap]
rs7576428	0.85[JPT][hapmap]
rs7576924	0.80[TSI][hapmap]
rs7590310	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs7591193	0.81[EUR][1000 genomes]
rs7591392	0.81[EUR][1000 genomes]
rs7602551	0.85[JPT][hapmap]
rs969301	0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs969302	0.90[GIH][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs969303	0.85[JPT][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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv978925	chr2:56497527-56504097	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56486600-56505000	Weak transcription	Left Ventricle	heart
2	chr2:56487800-56506000	Weak transcription	Psoas Muscle	Psoas
3	chr2:56488000-56514000	Weak transcription	HSMM	muscle
4	chr2:56498200-56498800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:56498400-56498800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:56498400-56498800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:56498400-56499200	Enhancers	H9 Cell Line	embryonic stem cell

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