Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50006945..50008892-chr15:50010778..50013290,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10851478	1.00[YRI][hapmap]
rs10851479	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs11070706	0.92[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11634947	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11637582	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs11852336	0.92[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12232355	0.92[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12591317	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12591659	0.92[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs12902960	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs12908635	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1395901	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap]
rs17402115	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs17404727	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1911612	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs1948975	0.81[EUR][1000 genomes]
rs1976551	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs34941109	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62022700	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7180421	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8032688	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs8033476	0.90[JPT][hapmap]
rs925104	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv569393	chr15:49977687-50012256	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17483319	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50003800-50010400	Weak transcription	Aorta	Aorta
2	chr15:50004400-50011600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:50004400-50014200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:50005600-50007600	Weak transcription	Primary B cells from cord blood	blood
5	chr15:50005600-50008400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50005800-50013200	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:50006400-50008200	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:50006800-50007800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:50006800-50008200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr15:50007000-50008200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:50007200-50007800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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