Variant report

Variant	rs11064990
Chromosome Location	chr12:120444755-120444756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120442698..120445126-chr12:120517597..120519391,2	MCF-7	breast:
2	chr12:120443342..120446063-chr12:120447694..120450232,2	MCF-7	breast:
3	chr12:120426878..120429216-chr12:120443292..120445570,2	MCF-7	breast:
4	chr12:120442761..120445274-chr12:120486200..120488190,2	MCF-7	breast:
5	chr12:120442635..120444845-chr12:120516019..120517526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272464	Chromatin interaction
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10161261	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10849734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11064997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065005	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065019	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11065024	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12307887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313412	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314638	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425507	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13377680	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59709506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748076	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7300507	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73410877	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7957793	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7964192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964299	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7964301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970773	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974285	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120428600-120445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120428800-120447800	Weak transcription	Gastric	stomach
5	chr12:120428800-120451400	Weak transcription	HMEC	breast
6	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus
8	chr12:120429400-120445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:120429800-120445400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:120433200-120445000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:120434200-120444800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:120437000-120445200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:120437800-120462400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:120438600-120445000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:120438600-120445000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:120438800-120451400	Weak transcription	A549	lung
17	chr12:120439000-120445000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:120442200-120451400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:120442600-120445200	Weak transcription	HepG2	liver
20	chr12:120443200-120445400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:120443200-120446000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:120443200-120446400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:120443400-120446000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:120443400-120446400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:120443600-120444800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr12:120443600-120445000	Enhancers	Primary T cells from cord blood	blood
27	chr12:120443600-120446400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:120443800-120444800	Enhancers	Hela-S3	cervix
29	chr12:120443800-120446000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:120443800-120446400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:120443800-120446600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:120444000-120444800	Enhancers	NHEK	skin
33	chr12:120444200-120444800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:120444200-120445800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:120444200-120445800	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:120444400-120444800	Enhancers	Thymus	Thymus
37	chr12:120444400-120445000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:120444400-120445400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:120444400-120445600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:120444400-120445800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:120444400-120446400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:120444400-120446400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120444400-120446400	Enhancers	Fetal Thymus	thymus
44	chr12:120444600-120444800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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