Variant report

Variant	rs549218217
Chromosome Location	chr12:63289704-63289705
allele	C/T
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	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv899163	chr12:63288343-63325988	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63271600-63294400	Weak transcription	Ovary	ovary
2	chr12:63281000-63293000	Weak transcription	Left Ventricle	heart
3	chr12:63281200-63293600	Weak transcription	Gastric	stomach
4	chr12:63282200-63295400	Weak transcription	Lung	lung
5	chr12:63284200-63291400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:63285600-63291400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:63286200-63291400	Weak transcription	Brain Anterior Caudate	brain
8	chr12:63286200-63291600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:63286200-63293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:63286400-63291400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:63286400-63291600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:63286400-63291600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:63286400-63293400	Weak transcription	A549	lung
14	chr12:63286800-63291800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:63286800-63291800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:63287400-63291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:63287400-63293000	Weak transcription	Stomach Mucosa	stomach
18	chr12:63287400-63309000	Weak transcription	Pancreas	Pancrea
19	chr12:63287600-63291400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:63287600-63291600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:63287600-63292000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:63287800-63316400	Weak transcription	Fetal Intestine Small	intestine
23	chr12:63289200-63289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:63289200-63289800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63289400-63290000	Enhancers	HepG2	liver
26	chr12:63289400-63290400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:63289400-63293000	Weak transcription	Placenta	Placenta
28	chr12:63289400-63293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:63289600-63293400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:63289600-63293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:63289600-63294600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:63289600-63294600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:63289600-63294600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:63289600-63306600	Weak transcription	H1 Cell Line	embryonic stem cell

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