Variant report

Variant	rs17008829
Chromosome Location	chr2:73401110-73401111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73339571..73341908-chr2:73400787..73402875,2	K562	blood:
2	chr2:73399809..73401361-chr2:73460844..73463359,2	MCF-7	breast:
3	chr2:73399970..73401792-chr2:73404374..73406041,2	MCF-7	breast:
4	chr2:73400031..73402638-chr2:73440511..73442710,2	MCF-7	breast:
5	chr2:73387532..73389570-chr2:73400341..73402912,2	K562	blood:
6	chr2:73399661..73401176-chr2:73460314..73462757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272702	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000135631	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10048666	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10185970	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198711	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11888772	1.00[ASN][1000 genomes]
rs11893547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009208	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13423796	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424035	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2288632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73384000-73402600	Weak transcription	Right Atrium	heart
2	chr2:73399200-73402400	Weak transcription	Right Ventricle	heart
3	chr2:73400200-73402400	Weak transcription	Gastric	stomach
4	chr2:73401000-73401200	Bivalent Enhancer	Placenta	Placenta
5	chr2:73401000-73404000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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