Variant report

Variant	rs7569150
Chromosome Location	chr2:177679672-177679673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:177004878..177006132-chr2:177679220..177679989,4	MCF-7	breast:
2	chr2:177516751..177517622-chr2:177679221..177680084,2	MCF-7	breast:
3	chr2:177518427..177519228-chr2:177679235..177679802,3	MCF-7	breast:
4	chr2:177678711..177679684-chr2:177710502..177711032,2	MCF-7	breast:
5	chr2:177543870..177544476-chr2:177679175..177679998,2	MCF-7	breast:
6	chr2:177516771..177517762-chr2:177679104..177680158,5	MCF-7	breast:
7	chr2:177672353..177675128-chr2:177678147..177680944,2	K562	blood:
8	chr2:177610086..177610770-chr2:177679196..177679715,2	MCF-7	breast:
9	chr2:177518336..177518879-chr2:177679032..177679756,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223777	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12470292	0.83[CHD][hapmap]
rs12477377	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12693106	0.94[CHD][hapmap]
rs1437724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1513881	0.84[CEU][hapmap]
rs1554824	0.85[AMR][1000 genomes]
rs17670224	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62174238	0.82[ASN][1000 genomes]
rs6706043	0.89[ASN][1000 genomes]

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	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006500	chr2:177548521-177707097	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7569150	OLA1	cis	parietal	SCAN
rs7569150	HOXD11	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177677400-177681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:177678000-177680200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:177678200-177683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:177678600-177681600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:177678600-177683200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:177679000-177683400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:177679200-177680000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:177679400-177680000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:177679400-177680200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:177679400-177681000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:177679400-177681200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:177679400-177681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:177679400-177681600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:177679600-177681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:177679600-177681600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:177679600-177681600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:177679600-177681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:177679600-177681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:177679600-177682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:177679600-177682400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:177679600-177683000	Weak transcription	Fetal Lung	lung

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