Variant report

Variant	rs550749262
Chromosome Location	chr12:64334231-64334232
allele	G/T
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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
3	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
4	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:64325400-64334400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:64328000-64339800	Enhancers	Fetal Brain Male	brain
7	chr12:64328200-64334400	Weak transcription	Lung	lung
8	chr12:64328400-64339600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:64329000-64336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64329000-64342200	Weak transcription	Hela-S3	cervix
12	chr12:64329400-64339400	Weak transcription	HMEC	breast
13	chr12:64329800-64343800	Weak transcription	Osteobl	bone
14	chr12:64330000-64342000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:64330000-64343800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:64330200-64338400	Weak transcription	Fetal Stomach	stomach
17	chr12:64330400-64346800	Weak transcription	Gastric	stomach
18	chr12:64330600-64334400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:64330600-64334600	Weak transcription	Esophagus	oesophagus
20	chr12:64331200-64334400	Enhancers	Brain Anterior Caudate	brain
21	chr12:64331400-64334800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:64332000-64334400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64332000-64335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:64332000-64335800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:64332000-64339200	Weak transcription	NHLF	lung
26	chr12:64332200-64334400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:64332200-64334800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:64332200-64335800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:64332200-64337200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:64332200-64343800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:64332400-64334400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:64332400-64334400	Weak transcription	HSMMtube	muscle
33	chr12:64332400-64338600	Weak transcription	Right Ventricle	heart
34	chr12:64332600-64335400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:64332800-64334600	Enhancers	HepG2	liver
36	chr12:64332800-64335200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:64333000-64334600	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:64333000-64334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:64333000-64334800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr12:64333000-64334800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:64333000-64337400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:64333000-64339000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:64333000-64349200	Weak transcription	HSMM	muscle
44	chr12:64333200-64334600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:64333200-64334600	Weak transcription	NHEK	skin
46	chr12:64333200-64334800	Enhancers	HUVEC	blood vessel
47	chr12:64333200-64335400	Enhancers	Fetal Heart	heart
48	chr12:64333400-64334800	Enhancers	Adipose Nuclei	Adipose
49	chr12:64333400-64334800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:64333400-64335200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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