Variant report

Variant	rs530064432
Chromosome Location	chr12:64533359-64533360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3336339	chr12:64533135-64536433	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
2	chr12:64511200-64539400	Weak transcription	HepG2	liver
3	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
4	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
5	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:64522800-64540800	Weak transcription	Fetal Kidney	kidney
7	chr12:64524200-64536200	Weak transcription	NHEK	skin
8	chr12:64524400-64535600	Weak transcription	HSMMtube	muscle
9	chr12:64524400-64541200	Weak transcription	Gastric	stomach
10	chr12:64524600-64535600	Weak transcription	Esophagus	oesophagus
11	chr12:64525000-64536000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:64525200-64535600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:64525600-64535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:64527800-64535600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:64527800-64535800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:64527800-64536000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:64527800-64536000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:64527800-64536000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:64527800-64536200	Weak transcription	Liver	Liver
20	chr12:64527800-64536200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:64527800-64537000	Weak transcription	Right Ventricle	heart
22	chr12:64528000-64535400	Weak transcription	Pancreas	Pancrea
23	chr12:64528000-64535600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:64528000-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:64528000-64535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:64528000-64535600	Weak transcription	Left Ventricle	heart
27	chr12:64528000-64535800	Weak transcription	Aorta	Aorta
28	chr12:64528000-64536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:64528000-64536000	Weak transcription	Placenta	Placenta
30	chr12:64528000-64536400	Weak transcription	Fetal Brain Male	brain
31	chr12:64528000-64538400	Weak transcription	Fetal Heart	heart
32	chr12:64528000-64540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:64528200-64535600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:64528200-64536000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:64528200-64536000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:64528200-64536200	Weak transcription	Lung	lung
39	chr12:64528600-64540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:64528800-64536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:64529000-64535400	Weak transcription	Fetal Stomach	stomach
42	chr12:64529000-64536200	Weak transcription	Spleen	Spleen
43	chr12:64529200-64535800	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:64529400-64536600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:64529800-64535600	Weak transcription	Fetal Lung	lung
46	chr12:64529800-64536200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:64530000-64535400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:64530000-64535600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:64530000-64536200	Weak transcription	Adipose Nuclei	Adipose
50	chr12:64530200-64534200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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