Variant report

Variant	rs6727767
Chromosome Location	chr2:151016041-151016042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
2	chr2:151015327..151017230-chr2:151030179..151032620,2	K562	blood:
3	chr2:151015058..151016928-chr2:151339054..151341951,2	MCF-7	breast:
4	chr2:151001388..151003130-chr2:151014112..151016349,2	K562	blood:
5	chr2:150443333..150446157-chr2:151014708..151016770,2	MCF-7	breast:
6	chr2:151015971..151018361-chr2:151021107..151023162,2	K562	blood:

Variant related genes	Relation type
ENSG00000115963	Chromatin interaction
ENSG00000231969	Chromatin interaction
ENSG00000168288	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10180319	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10195216	0.90[ASN][1000 genomes]
rs1157219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685263	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11687975	0.95[ASN][1000 genomes]
rs11693901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12618290	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405415	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374159	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2376607	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28871317	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4417736	0.90[ASN][1000 genomes]
rs4567956	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667375	0.90[ASN][1000 genomes]
rs4667376	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4667377	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667379	0.92[ASN][1000 genomes]
rs6708312	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719194	0.86[ASN][1000 genomes]
rs6721152	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727863	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6750791	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563665	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601392	0.90[ASN][1000 genomes]
rs9287808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs954077	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151011000-151019000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:151011800-151016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:151013400-151023800	Weak transcription	Fetal Brain Male	brain
4	chr2:151013800-151022800	Weak transcription	Fetal Lung	lung
5	chr2:151014000-151018800	Weak transcription	Fetal Brain Female	brain
6	chr2:151014600-151021400	Weak transcription	A549	lung

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