Variant report

Variant	rs12372667
Chromosome Location	chr12:123589293-123589294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123587888..123589723-chr12:123591389..123594363,2	MCF-7	breast:
2	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:
3	chr12:123578867..123580732-chr12:123586590..123589378,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11057167	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.90[EUR][1000 genomes]
rs11060765	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11060942	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061244	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061275	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061615	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12368208	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12371718	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2844287	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs484200	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs523682	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56347904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs947800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs947801	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
4	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:123579800-123596200	Weak transcription	Osteobl	bone
10	chr12:123580000-123589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:123580000-123589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:123580000-123592600	Weak transcription	NHEK	skin
13	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:123580200-123589600	Weak transcription	Spleen	Spleen
15	chr12:123580200-123589600	Weak transcription	HMEC	breast
16	chr12:123580200-123590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:123581000-123589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:123581000-123590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:123581000-123593000	Weak transcription	Pancreas	Pancrea
22	chr12:123581200-123593000	Weak transcription	Brain Germinal Matrix	brain
23	chr12:123581400-123591600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:123582200-123591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:123582600-123591200	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:123582800-123589400	Weak transcription	Placenta	Placenta
27	chr12:123582800-123591200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:123582800-123591400	Weak transcription	Brain Substantia Nigra	brain
29	chr12:123582800-123592600	Weak transcription	Gastric	stomach
30	chr12:123583000-123589400	Weak transcription	Psoas Muscle	Psoas
31	chr12:123583000-123591200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:123583000-123591400	Weak transcription	HSMM	muscle
33	chr12:123583000-123595800	Weak transcription	NHDF-Ad	bronchial
34	chr12:123583200-123599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:123583600-123591800	Weak transcription	HSMMtube	muscle
36	chr12:123583600-123592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:123584600-123593400	Weak transcription	Colonic Mucosa	Colon
38	chr12:123584800-123590200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:123584800-123591800	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:123585400-123590400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:123585800-123590400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:123586000-123589400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:123586000-123592600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:123586200-123589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:123586200-123590200	Weak transcription	Fetal Brain Female	brain
46	chr12:123586400-123590200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:123586400-123590200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:123586600-123591200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:123586600-123591200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:123586800-123589600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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