Variant report

Variant	rs565454672
Chromosome Location	chr12:118498369-118498370
allele	A/G
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
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000111445	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	chr12:118497000-118498400	Flanking Active TSS	Osteobl	bone
3	chr12:118497000-118499800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:118497200-118498400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr12:118497200-118498400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:118497200-118498600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr12:118497200-118500400	Active TSS	HSMMtube	muscle
11	chr12:118497200-118500800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:118497200-118501200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:118497400-118498400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:118497400-118498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:118497400-118498400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr12:118497400-118498400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:118497400-118498400	Flanking Active TSS	Liver	Liver
18	chr12:118497400-118498400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:118497400-118498400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:118497400-118498400	Flanking Active TSS	Fetal Lung	lung
21	chr12:118497400-118498400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr12:118497400-118498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:118497400-118498400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr12:118497400-118498600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118497400-118500000	Active TSS	NHLF	lung
26	chr12:118497400-118500600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:118497400-118500600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:118497400-118500600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:118497400-118500600	Active TSS	Fetal Intestine Large	intestine
30	chr12:118497400-118501000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr12:118497400-118501000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:118497400-118501000	Active TSS	Aorta	Aorta
33	chr12:118497400-118501000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:118497400-118501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr12:118497400-118501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:118497600-118498400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:118497600-118498400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:118497600-118498400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr12:118497600-118498400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:118497600-118498400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:118497600-118498400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:118497600-118498400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:118497600-118498400	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr12:118497600-118498400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:118497600-118498400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:118497600-118498400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr12:118497600-118498600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:118497600-118498600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:118497600-118498600	Flanking Active TSS	Fetal Brain Male	brain
50	chr12:118497600-118500000	Active TSS	Fetal Muscle Trunk	muscle

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