Variant report

Variant	rs544350322
Chromosome Location	chr12:118497578-118497579
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118453031..118454691-chr12:118496978..118499714,2	K562	blood:
2	chr12:118496924..118498642-chr12:118498871..118500606,2	MCF-7	breast:
3	chr12:118478007..118480005-chr12:118496581..118498795,2	K562	blood:
4	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
5	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
6	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
7	chr12:118476730..118480005-chr12:118496581..118498795,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176871	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000176834	Chromatin interaction

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	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv3500854	chr12:118497269-118501167	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
2	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
5	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:118490800-118497800	Weak transcription	Thymus	Thymus
9	chr12:118491000-118497600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118491200-118497600	Weak transcription	Esophagus	oesophagus
11	chr12:118491200-118497600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:118491400-118497600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:118491600-118497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:118494200-118497600	Weak transcription	Left Ventricle	heart
15	chr12:118494200-118497600	Weak transcription	Right Ventricle	heart
16	chr12:118494200-118497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:118494200-118497800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:118494200-118497800	Weak transcription	Colonic Mucosa	Colon
19	chr12:118494200-118497800	Weak transcription	Lung	lung
20	chr12:118494200-118498000	Weak transcription	Gastric	stomach
21	chr12:118494200-118498000	Weak transcription	Spleen	Spleen
22	chr12:118494400-118497600	Weak transcription	Psoas Muscle	Psoas
23	chr12:118494600-118497800	Weak transcription	Ovary	ovary
24	chr12:118496200-118497600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:118496200-118497800	Enhancers	Colon Smooth Muscle	Colon
26	chr12:118496200-118497800	Enhancers	Pancreas	Pancrea
27	chr12:118496400-118497800	Weak transcription	Fetal Stomach	stomach
28	chr12:118496400-118498000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:118496600-118497600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:118496800-118497600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:118496800-118497800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:118496800-118497800	Enhancers	Brain Angular Gyrus	brain
33	chr12:118496800-118498000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:118496800-118498200	Flanking Active TSS	A549	lung
35	chr12:118496800-118501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:118497000-118497600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:118497000-118497600	Enhancers	Brain Substantia Nigra	brain
38	chr12:118497000-118497800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:118497000-118497800	Active TSS	Fetal Brain Female	brain
40	chr12:118497000-118497800	Enhancers	Dnd41	blood
41	chr12:118497000-118498000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:118497000-118498200	Flanking Active TSS	NH-A	brain
43	chr12:118497000-118498400	Flanking Active TSS	Osteobl	bone
44	chr12:118497000-118499800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:118497200-118497600	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:118497200-118497600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr12:118497200-118497600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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