Variant report

Variant	rs71452642
Chromosome Location	chr12:118703050-118703051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118702115..118703635-chr12:118708440..118710565,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35078534	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71452644	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
2	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
3	chr12:118652200-118727800	Weak transcription	NHLF	lung
4	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:118669000-118725200	Weak transcription	K562	blood
7	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
8	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
9	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
14	chr12:118674000-118726200	Weak transcription	Lung	lung
15	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:118676200-118707400	Weak transcription	HSMM	muscle
17	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:118677000-118708000	Weak transcription	NHEK	skin
21	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:118692400-118728000	Weak transcription	Adipose Nuclei	Adipose
25	chr12:118693400-118725600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:118693600-118712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:118693600-118728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:118694400-118703200	Weak transcription	NHDF-Ad	bronchial
30	chr12:118694600-118705600	Weak transcription	Fetal Lung	lung
31	chr12:118694600-118707600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:118694800-118719800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:118695000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:118697000-118705000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:118697200-118703800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:118697400-118704800	Weak transcription	Small Intestine	intestine
38	chr12:118697600-118723600	Weak transcription	Pancreas	Pancrea
39	chr12:118698200-118705000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:118698400-118705000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:118698600-118703800	Strong transcription	Dnd41	blood
42	chr12:118699000-118703800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:118699000-118703800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:118699200-118703800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:118699600-118703200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:118699600-118706800	Weak transcription	Osteobl	bone
48	chr12:118699600-118712000	Weak transcription	GM12878-XiMat	blood
49	chr12:118699800-118727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach

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