Variant report

Variant	rs11175469
Chromosome Location	chr12:65008190-65008191
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	chr12:65007806..65009395-chr12:65072726..65075432,2	MCF-7	breast:
2	chr12:65006929..65009756-chr12:65024584..65028826,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11175467	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299132	1.00[ASN][1000 genomes]
rs12315116	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12828124	1.00[ASN][1000 genomes]
rs34100626	1.00[ASN][1000 genomes]
rs56379182	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58562693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59517579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730726	1.00[ASN][1000 genomes]
rs73319644	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65005600-65010200	Weak transcription	Spleen	Spleen
2	chr12:65005800-65010200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:65005800-65015200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:65005800-65017800	Weak transcription	Gastric	stomach
5	chr12:65006000-65009800	Weak transcription	Brain Angular Gyrus	brain
6	chr12:65006000-65010000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:65006000-65012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:65006200-65008600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:65006200-65008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:65006200-65009600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:65006200-65009600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:65006200-65009600	Weak transcription	HSMMtube	muscle
13	chr12:65006200-65009600	Weak transcription	Osteobl	bone
14	chr12:65006200-65009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:65006200-65009800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:65006200-65009800	Weak transcription	HSMM	muscle
17	chr12:65006200-65009800	Weak transcription	NHDF-Ad	bronchial
18	chr12:65006200-65010000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:65006200-65010000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:65006200-65010200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:65006200-65010200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:65006200-65010200	Weak transcription	Brain Substantia Nigra	brain
23	chr12:65006200-65013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:65006200-65017400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:65006200-65017600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:65006200-65018800	Weak transcription	Fetal Thymus	thymus
27	chr12:65006200-65019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:65006200-65019000	Weak transcription	NHEK	skin
29	chr12:65006200-65019400	Weak transcription	Psoas Muscle	Psoas
30	chr12:65006400-65009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:65006400-65010200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:65006400-65010200	Weak transcription	Colonic Mucosa	Colon
33	chr12:65006400-65017000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:65006600-65008800	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:65006600-65009400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:65006600-65009600	Weak transcription	Left Ventricle	heart
37	chr12:65006600-65009600	Weak transcription	Ovary	ovary
38	chr12:65006600-65009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:65006600-65010200	Weak transcription	Right Ventricle	heart
40	chr12:65006600-65010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:65006600-65010200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:65006600-65012000	Weak transcription	Placenta	Placenta
43	chr12:65006600-65012200	Weak transcription	Pancreas	Pancrea
44	chr12:65006600-65012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:65006600-65012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:65006600-65012800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:65006600-65012800	Weak transcription	Right Atrium	heart
48	chr12:65006600-65017400	Weak transcription	Small Intestine	intestine
49	chr12:65006600-65018200	Weak transcription	Fetal Intestine Large	intestine
50	chr12:65006800-65008200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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