Variant report

Variant	rs1030264
Chromosome Location	chr16:75740249-75740250
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	chr16:75738452..75740473-chr16:75740490..75742244,2	MCF-7	breast:
2	chr16:75739275..75740832-chr16:75744437..75746332,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10871314	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11149842	0.90[CEU][hapmap]
rs11643215	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12443899	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12445389	0.81[AMR][1000 genomes]
rs12596083	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12597472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12598094	0.82[MEX][hapmap]
rs12599322	0.82[MEX][hapmap]
rs1477401	0.80[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap]
rs16940253	0.82[MEX][hapmap]
rs17764918	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1865493	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1979717	0.82[MEX][hapmap]
rs1991053	0.85[CHB][hapmap]
rs2042406	0.84[ASN][1000 genomes]
rs2059261	0.82[AMR][1000 genomes]
rs2161698	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap]
rs2242406	0.82[MEX][hapmap]
rs2289063	0.82[MEX][hapmap]
rs2903096	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35977374	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3743599	0.86[MEX][hapmap]
rs3784929	0.90[CEU][hapmap];0.83[MEX][hapmap]
rs3851741	0.82[MEX][hapmap]
rs41505349	0.90[CEU][hapmap];0.83[MEX][hapmap]
rs4633754	0.83[AMR][1000 genomes]
rs4887835	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4887836	1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4887837	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4888448	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4888449	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4888451	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4888452	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888455	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5010692	0.90[CEU][hapmap];0.83[MEX][hapmap]
rs56954102	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57208266	0.82[AMR][1000 genomes]
rs57396453	0.81[AMR][1000 genomes]
rs58091977	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58264015	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58533792	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58846463	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59449831	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60775162	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60895247	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61183686	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6564285	0.85[CHB][hapmap]
rs7186966	0.80[AMR][1000 genomes]
rs7187419	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7192453	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7193066	0.82[MEX][hapmap]
rs7196735	0.85[CHB][hapmap]
rs8048533	0.83[AMR][1000 genomes]
rs8048806	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8053219	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8060972	0.90[CEU][hapmap]
rs963820	0.82[MEX][hapmap]
rs9921364	0.82[ASN][1000 genomes]
rs9930993	0.83[ASN][1000 genomes]
rs9931730	0.83[ASN][1000 genomes]
rs9934159	0.90[CEU][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3390407	chr16:75701870-75751074	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv906930	chr16:75728261-75872464	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv984356	chr16:75739287-75743569	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75738800-75741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:75739200-75743600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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