Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58989693..58992131-chr7:34155644..34158219,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10165014	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193538	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10204566	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12986742	0.89[ASN][1000 genomes]
rs1613599	0.84[ASN][1000 genomes]
rs2862872	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2862873	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2862874	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6419632	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545701	0.84[ASN][1000 genomes]
rs6545702	0.83[ASN][1000 genomes]
rs6723486	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748058	0.82[ASN][1000 genomes]
rs6759519	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759757	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727856	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs727857	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7596101	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7597839	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963537	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6731121	LOC339803	cis	parietal	SCAN
rs6731121	USP34	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58989400-58993000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:58989800-58992000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:58989800-58995000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:58990200-58995200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:58990400-58992000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:58990600-58995000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:58991400-58992000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:58991600-58992200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:58991600-58992400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:58991600-58992400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:58991600-58992600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:58991600-58993200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:58991600-58993200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:58991600-58993200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:58991600-58993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:58991800-58992200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:58991800-58992400	Enhancers	K562	blood
18	chr2:58991800-58992600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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