Variant report

Variant	rs382916
Chromosome Location	chr5:40805034-40805035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40802997..40805283-chr5:40828137..40831104,3	MCF-7	breast:
2	chr5:40793843..40796817-chr5:40803354..40805786,3	K562	blood:
3	chr5:40805017..40807937-chr5:40809929..40811928,3	K562	blood:
4	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[JPT][hapmap]
rs1097592	1.00[JPT][hapmap]
rs152374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs152376	0.94[ASN][1000 genomes]
rs1530811	1.00[JPT][hapmap]
rs154269	1.00[ASN][1000 genomes]
rs154270	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs154271	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154274	1.00[JPT][hapmap]
rs154276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154277	1.00[ASN][1000 genomes]
rs154278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs173618	0.94[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181818	0.83[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs183138	0.94[ASN][1000 genomes]
rs185114	1.00[ASN][1000 genomes]
rs185115	1.00[ASN][1000 genomes]
rs185381	1.00[ASN][1000 genomes]
rs187274	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs192962	1.00[JPT][hapmap]
rs249408	0.87[ASN][1000 genomes]
rs249409	0.87[ASN][1000 genomes]
rs249411	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs249412	0.87[ASN][1000 genomes]
rs249421	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249424	1.00[ASN][1000 genomes]
rs249426	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249427	1.00[ASN][1000 genomes]
rs249431	1.00[ASN][1000 genomes]
rs249432	0.94[ASN][1000 genomes]
rs249433	0.94[ASN][1000 genomes]
rs249434	0.94[ASN][1000 genomes]
rs249435	0.94[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs29737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs29741	1.00[ASN][1000 genomes]
rs29762	1.00[JPT][hapmap]
rs29763	1.00[JPT][hapmap]
rs29764	1.00[JPT][hapmap]
rs323556	1.00[JPT][hapmap]
rs323562	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs380334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs4129381	0.87[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs42515	1.00[JPT][hapmap]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs445367	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs456929	1.00[ASN][1000 genomes]
rs456995	1.00[ASN][1000 genomes]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs461612	1.00[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs463905	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464045	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs694217	1.00[JPT][hapmap]
rs704032	0.94[ASN][1000 genomes]
rs704033	0.94[ASN][1000 genomes]
rs704034	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs837100	1.00[ASN][1000 genomes]
rs837102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs837105	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs837109	1.00[CHB][hapmap]
rs837119	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs837267	1.00[ASN][1000 genomes]
rs837279	0.94[ASN][1000 genomes]
rs837378	1.00[JPT][hapmap]
rs837385	1.00[JPT][hapmap]
rs9292786	0.83[AFR][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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40800200-40808200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40800200-40808400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:40800600-40808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:40804000-40808200	Weak transcription	K562	blood

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