Variant report

Variant	rs189676750
Chromosome Location	chr12:64333495-64333496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
3	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
4	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
5	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:64323000-64333800	Weak transcription	Ovary	ovary
7	chr12:64325400-64334200	Weak transcription	Fetal Lung	lung
8	chr12:64325400-64334200	Weak transcription	NH-A	brain
9	chr12:64325400-64334400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
11	chr12:64328200-64334400	Weak transcription	Lung	lung
12	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:64328600-64334200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:64329000-64336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
17	chr12:64329400-64339400	Weak transcription	HMEC	breast
18	chr12:64329600-64333800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:64329800-64343800	Weak transcription	Osteobl	bone
20	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
23	chr12:64330400-64346800	Weak transcription	Gastric	stomach
24	chr12:64330600-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:64330600-64334600	Weak transcription	Esophagus	oesophagus
26	chr12:64330800-64333600	Weak transcription	Fetal Intestine Large	intestine
27	chr12:64331200-64334400	Enhancers	Brain Anterior Caudate	brain
28	chr12:64331400-64334800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:64332000-64333600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:64332000-64334000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:64332000-64334000	Weak transcription	Fetal Brain Female	brain
32	chr12:64332000-64334400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:64332000-64335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:64332000-64335800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:64332000-64339200	Weak transcription	NHLF	lung
36	chr12:64332200-64333600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:64332200-64333800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:64332200-64333800	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:64332200-64333800	Weak transcription	Left Ventricle	heart
40	chr12:64332200-64334000	Weak transcription	Right Atrium	heart
41	chr12:64332200-64334400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:64332200-64334800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:64332200-64335800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:64332200-64337200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:64332400-64333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:64332400-64333600	Enhancers	NHDF-Ad	bronchial
48	chr12:64332400-64333800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:64332400-64334000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:64332400-64334000	Weak transcription	A549	lung

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