Variant report

Variant	rs11064986
Chromosome Location	chr12:120434838-120434839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120434471..120436415-chr12:120516708..120518666,2	MCF-7	breast:
2	chr12:120433338..120435447-chr12:120438031..120440080,2	MCF-7	breast:
3	chr12:120426883..120428563-chr12:120432657..120435582,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10744747	0.95[ASN][1000 genomes]
rs10849732	0.86[EUR][1000 genomes]
rs10849735	0.86[EUR][1000 genomes]
rs11064998	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065004	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065014	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065017	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11065018	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12310591	0.84[EUR][1000 genomes]
rs12311327	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320072	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12422923	0.82[EUR][1000 genomes]
rs2240311	0.81[EUR][1000 genomes]
rs2393570	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2893812	0.96[ASN][1000 genomes]
rs3742044	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759399	0.80[ASN][1000 genomes]
rs3852586	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3886910	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4105713	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4351876	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767870	0.97[ASN][1000 genomes]
rs4767873	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767875	0.81[EUR][1000 genomes]
rs6490278	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6490280	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6490281	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6490284	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295717	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298183	0.86[EUR][1000 genomes]
rs7302874	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305625	0.80[EUR][1000 genomes]
rs7306739	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7312811	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312971	0.84[EUR][1000 genomes]
rs7314959	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956436	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960725	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7961738	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962812	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971249	0.81[EUR][1000 genomes]
rs7977281	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978927	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1844134	chr12:120426469-120441443	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1845761	chr12:120426469-120441443	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120428400-120435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:120428600-120445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:120428800-120435800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:120428800-120444000	Weak transcription	NHEK	skin
7	chr12:120428800-120444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:120428800-120447800	Weak transcription	Gastric	stomach
9	chr12:120428800-120451400	Weak transcription	HMEC	breast
10	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:120429000-120436200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:120429000-120440600	Weak transcription	Fetal Brain Female	brain
13	chr12:120429000-120443800	Weak transcription	Hela-S3	cervix
14	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus
15	chr12:120429200-120436200	Weak transcription	Fetal Thymus	thymus
16	chr12:120429400-120436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:120429400-120443200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:120429400-120445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:120429600-120436200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:120429800-120436200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:120429800-120445400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120430000-120436400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:120430000-120437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:120430400-120435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:120430400-120439800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:120430600-120436200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:120430600-120436200	Weak transcription	Thymus	Thymus
28	chr12:120431800-120435400	Strong transcription	Primary T cells from cord blood	blood
29	chr12:120432200-120435200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:120432600-120441800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:120433000-120444200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:120433200-120437200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr12:120433200-120441800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:120433200-120445000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:120433400-120436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:120434200-120435400	Weak transcription	HSMMtube	muscle
37	chr12:120434200-120444800	Weak transcription	Primary B cells from cord blood	blood
38	chr12:120434400-120437600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:120434600-120436600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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