Variant report

Variant	rs11120613
Chromosome Location	chr1:215900650-215900651
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215898927..215901081-chr1:215901908..215904757,2	K562	blood:
2	chr1:215896976..215899572-chr1:215900130..215902323,2	MCF-7	breast:
3	chr1:215890247..215892137-chr1:215899124..215901276,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10779659	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10864191	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12092733	0.83[CEU][hapmap];0.80[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap]
rs12406638	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];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17025349	0.90[CEU][hapmap]
rs2255781	0.90[CEU][hapmap]
rs2364864	0.89[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2488418	0.85[CEU][hapmap]
rs2797213	0.91[JPT][hapmap]
rs2797216	0.86[JPT][hapmap]
rs2797217	0.86[JPT][hapmap]
rs2797219	0.86[JPT][hapmap]
rs2797221	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2797257	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2797259	0.83[CEU][hapmap]
rs2797260	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2797261	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2820708	0.91[JPT][hapmap]
rs2820709	0.86[JPT][hapmap]
rs2820715	0.91[JPT][hapmap]
rs2820716	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2820717	0.90[JPT][hapmap]
rs2820723	0.83[EUR][1000 genomes]
rs2820724	0.83[TSI][hapmap]
rs4233312	0.94[ASW][hapmap];0.85[CEU][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs4330896	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666832	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap]
rs6698895	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7540897	0.85[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs9430146	0.83[EUR][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11120613	ANGEL2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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