Variant report

Variant	rs12371765
Chromosome Location	chr12:47550194-47550195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47544469..47546961-chr12:47548595..47550725,2	MCF-7	breast:
2	chr12:47533951..47536352-chr12:47547162..47551314,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10785658	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs10785660	0.89[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10785661	0.82[CEU][hapmap];0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs10881051	0.86[CEU][hapmap]
rs10881056	0.83[EUR][1000 genomes]
rs10881057	0.82[EUR][1000 genomes]
rs10881058	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183755	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs11183769	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183774	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs12578367	0.87[CEU][hapmap]
rs12578995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579796	0.86[CEU][hapmap]
rs12830116	0.86[CEU][hapmap]
rs1357933	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357935	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1404812	0.87[CEU][hapmap]
rs1404813	0.84[CEU][hapmap]
rs1404819	0.87[CEU][hapmap]
rs1404820	0.82[CEU][hapmap]
rs1525444	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs1525453	0.90[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1830054	0.92[ASN][1000 genomes]
rs1880600	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1917658	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1949864	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2091294	0.86[CEU][hapmap]
rs2408714	0.91[CEU][hapmap]
rs4768141	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768775	0.87[CEU][hapmap]
rs4768777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55651541	0.89[EUR][1000 genomes]
rs6582696	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs7135951	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7136496	0.82[AMR][1000 genomes]
rs7297792	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7311824	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958186	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7958922	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963822	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7974123	0.87[EUR][1000 genomes]
rs9634260	0.90[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47536000-47550200	Weak transcription	Adipose Nuclei	Adipose
3	chr12:47536000-47550200	Weak transcription	Aorta	Aorta
4	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:47541600-47558400	Weak transcription	NHEK	skin
7	chr12:47547800-47550600	Enhancers	Ovary	ovary
8	chr12:47548400-47551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:47548600-47550800	Enhancers	Colon Smooth Muscle	Colon
10	chr12:47548800-47552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:47549000-47550800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:47549000-47551000	Enhancers	Primary T cells from cord blood	blood
13	chr12:47549000-47551200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:47549200-47550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:47549200-47550200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:47549200-47550200	Flanking Active TSS	A549	lung
17	chr12:47549200-47550600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:47549200-47550600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:47549200-47550600	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:47549200-47550600	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:47549200-47550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:47549200-47550800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:47549200-47550800	Enhancers	K562	blood
24	chr12:47549200-47551200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:47549400-47550400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:47549400-47550400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:47549400-47550400	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:47549400-47550600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:47549400-47550600	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:47549400-47550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:47549400-47550600	Enhancers	Stomach Smooth Muscle	stomach
32	chr12:47549400-47550600	Enhancers	NHLF	lung
33	chr12:47549400-47550600	Enhancers	Osteobl	bone
34	chr12:47549400-47550800	Enhancers	Pancreas	Pancrea
35	chr12:47549400-47551200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:47549400-47551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:47549400-47551400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr12:47549600-47550200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:47549600-47550200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr12:47549600-47550400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:47549600-47550600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:47549600-47550600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:47549600-47550600	Enhancers	Right Atrium	heart
44	chr12:47549600-47550800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:47549600-47551200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:47549800-47550400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:47550000-47550200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:47550000-47550400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:47550000-47550400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr12:47550000-47550400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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