Variant report

Variant	rs377757315
Chromosome Location	chr12:118498401-118498402
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118498235..118500819-chr9:19378763..19380360,2	MCF-7	breast:
2	chr12:118453031..118454691-chr12:118496978..118499714,2	K562	blood:
3	chr12:118496924..118498642-chr12:118498871..118500606,2	MCF-7	breast:
4	chr12:118478007..118480005-chr12:118496581..118498795,2	K562	blood:
5	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
6	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
7	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
8	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
9	chr12:118476730..118480005-chr12:118496581..118498795,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000089220	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv3437249	chr12:118497594-118500542	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
5	esv3500853	chr12:118497894-118500567	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
6	esv3500855	chr12:118497894-118500567	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118496800-118501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:118497000-118499800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:118497200-118498600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:118497200-118500400	Active TSS	HSMMtube	muscle
8	chr12:118497200-118500800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:118497200-118501200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:118497400-118498600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:118497400-118500000	Active TSS	NHLF	lung
12	chr12:118497400-118500600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:118497400-118500600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:118497400-118500600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:118497400-118500600	Active TSS	Fetal Intestine Large	intestine
16	chr12:118497400-118501000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr12:118497400-118501000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:118497400-118501000	Active TSS	Aorta	Aorta
19	chr12:118497400-118501000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:118497400-118501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:118497400-118501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:118497600-118498600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr12:118497600-118498600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:118497600-118498600	Flanking Active TSS	Fetal Brain Male	brain
25	chr12:118497600-118500000	Active TSS	Fetal Muscle Trunk	muscle
26	chr12:118497600-118500600	Active TSS	Psoas Muscle	Psoas
27	chr12:118497600-118500800	Active TSS	Esophagus	oesophagus
28	chr12:118497600-118500800	Active TSS	Left Ventricle	heart
29	chr12:118497600-118501400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:118497800-118498600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:118497800-118498600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:118497800-118498600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr12:118497800-118498600	Flanking Active TSS	Fetal Thymus	thymus
34	chr12:118497800-118498600	Flanking Active TSS	Dnd41	blood
35	chr12:118497800-118500000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:118497800-118500400	Active TSS	Fetal Stomach	stomach
37	chr12:118497800-118500400	Active TSS	Lung	lung
38	chr12:118497800-118500600	Active TSS	Fetal Intestine Small	intestine
39	chr12:118497800-118500800	Active TSS	Brain Hippocampus Middle	brain
40	chr12:118497800-118500800	Active TSS	Fetal Kidney	kidney
41	chr12:118497800-118500800	Active TSS	Ovary	ovary
42	chr12:118497800-118501000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:118497800-118501200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:118498000-118498600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:118498000-118498600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:118498000-118500000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:118498000-118500000	Active TSS	HSMM	muscle
48	chr12:118498000-118500400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:118498000-118500400	Active TSS	Gastric	stomach
50	chr12:118498000-118500600	Active TSS	Brain Cingulate Gyrus	brain

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