Variant report

Variant	rs12297450
Chromosome Location	chr12:64376066-64376067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11175222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11175223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11175224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302441	1.00[AMR][1000 genomes]
rs12305930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312286	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313251	1.00[AMR][1000 genomes]
rs12315032	1.00[AMR][1000 genomes]
rs12316287	1.00[AMR][1000 genomes]
rs12318085	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64362600-64385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64362800-64377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:64362800-64378800	Weak transcription	Pancreas	Pancrea
5	chr12:64362800-64396000	Weak transcription	Psoas Muscle	Psoas
6	chr12:64364200-64376200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:64364200-64376800	Weak transcription	HSMMtube	muscle
8	chr12:64364200-64385800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:64365000-64383000	Weak transcription	Stomach Mucosa	stomach
10	chr12:64365800-64378600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:64365800-64379400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:64366400-64383600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:64370800-64384400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:64371800-64385800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:64372000-64383200	Weak transcription	Fetal Kidney	kidney
16	chr12:64372400-64376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:64372400-64382000	Weak transcription	HSMM	muscle
18	chr12:64372600-64376200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:64372800-64376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:64372800-64376400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:64372800-64380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:64373600-64376600	Weak transcription	Osteobl	bone
23	chr12:64373800-64376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:64373800-64383000	Weak transcription	HMEC	breast
25	chr12:64374000-64376400	Weak transcription	Ovary	ovary
26	chr12:64374000-64376800	Weak transcription	NH-A	brain
27	chr12:64374000-64377000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:64374000-64377200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:64374200-64376200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:64374200-64376400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:64374400-64377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:64374400-64377800	Weak transcription	NHEK	skin
33	chr12:64374400-64379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:64374600-64376400	Weak transcription	A549	lung
35	chr12:64374600-64378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:64374800-64376200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:64375000-64377200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:64375200-64377000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64375200-64377200	Enhancers	NHLF	lung
40	chr12:64375400-64376400	Weak transcription	Brain Germinal Matrix	brain
41	chr12:64375400-64377000	Enhancers	Brain Anterior Caudate	brain
42	chr12:64375400-64377200	Enhancers	Colon Smooth Muscle	Colon
43	chr12:64375400-64377200	Enhancers	Fetal Brain Female	brain
44	chr12:64375400-64383200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:64375600-64376800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:64375600-64378800	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:64375600-64383200	Weak transcription	Fetal Lung	lung
48	chr12:64375600-64384600	Weak transcription	Hela-S3	cervix
49	chr12:64375800-64377200	Enhancers	NHDF-Ad	bronchial
50	chr12:64375800-64385600	Weak transcription	Adipose Nuclei	Adipose

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