Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:173082820..173084740-chr2:173087213..173089169,2	MCF-7	breast:
2	chr2:173082842..173085574-chr2:173086283..173088823,2	K562	blood:
3	chr2:173070300..173072714-chr2:173083425..173085764,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10803868	0.89[EUR][1000 genomes]
rs10930530	0.88[EUR][1000 genomes]
rs10930532	0.88[EUR][1000 genomes]
rs10930533	0.87[EUR][1000 genomes]
rs10930534	0.89[EUR][1000 genomes]
rs10930535	1.00[EUR][1000 genomes]
rs11684103	0.88[EUR][1000 genomes]
rs12476259	0.88[EUR][1000 genomes]
rs12614495	0.89[EUR][1000 genomes]
rs12614868	1.00[EUR][1000 genomes]
rs12990778	0.88[EUR][1000 genomes]
rs12991095	0.88[EUR][1000 genomes]
rs13034707	1.00[EUR][1000 genomes]
rs13034957	1.00[EUR][1000 genomes]
rs13430020	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542676	1.00[EUR][1000 genomes]
rs1906181	1.00[EUR][1000 genomes]
rs2054832	1.00[EUR][1000 genomes]
rs4467239	0.89[EUR][1000 genomes]
rs4524096	0.89[EUR][1000 genomes]
rs4583429	0.89[EUR][1000 genomes]
rs4972715	0.89[EUR][1000 genomes]
rs4972717	0.89[EUR][1000 genomes]
rs4972718	0.89[EUR][1000 genomes]
rs4972719	0.89[EUR][1000 genomes]
rs4972723	0.90[EUR][1000 genomes]
rs4972724	1.00[EUR][1000 genomes]
rs4972725	1.00[EUR][1000 genomes]
rs4972728	1.00[EUR][1000 genomes]
rs6433336	1.00[EUR][1000 genomes]
rs6433337	1.00[EUR][1000 genomes]
rs6433338	1.00[EUR][1000 genomes]
rs6433339	1.00[EUR][1000 genomes]
rs6705155	0.89[EUR][1000 genomes]
rs6708636	1.00[EUR][1000 genomes]
rs6709514	1.00[EUR][1000 genomes]
rs6714712	0.88[EUR][1000 genomes]
rs6743328	0.88[EUR][1000 genomes]
rs6747259	0.89[EUR][1000 genomes]
rs6747365	0.89[EUR][1000 genomes]
rs6751574	0.89[EUR][1000 genomes]
rs7575468	1.00[EUR][1000 genomes]
rs9750439	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv3033	chr2:173063284-173108586	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173072600-173084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:173074400-173084600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:173076200-173084000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:173077600-173087200	Weak transcription	Thymus	Thymus
5	chr2:173079800-173092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:173081200-173084000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:173082200-173090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173082200-173090600	Weak transcription	HMEC	breast
9	chr2:173082200-173092000	Weak transcription	Esophagus	oesophagus
10	chr2:173082600-173087200	Weak transcription	Fetal Thymus	thymus
11	chr2:173083200-173092400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:173083400-173086600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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