Variant report

Variant	rs558587498
Chromosome Location	chr12:118497927-118497928
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: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
ENSG00000089220	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	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	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:118494200-118498000	Weak transcription	Gastric	stomach
3	chr12:118494200-118498000	Weak transcription	Spleen	Spleen
4	chr12:118496400-118498000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:118496800-118498000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:118496800-118498200	Flanking Active TSS	A549	lung
7	chr12:118496800-118501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:118497000-118498000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:118497000-118498200	Flanking Active TSS	NH-A	brain
10	chr12:118497000-118498400	Flanking Active TSS	Osteobl	bone
11	chr12:118497000-118499800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:118497200-118498000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:118497200-118498000	Enhancers	Small Intestine	intestine
17	chr12:118497200-118498000	Active TSS	GM12878-XiMat	blood
18	chr12:118497200-118498200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:118497200-118498200	Flanking Active TSS	Stomach Mucosa	stomach
20	chr12:118497200-118498200	Flanking Active TSS	HMEC	breast
21	chr12:118497200-118498200	Flanking Active TSS	HUVEC	blood vessel
22	chr12:118497200-118498200	Flanking Active TSS	K562	blood
23	chr12:118497200-118498200	Flanking Active TSS	NHEK	skin
24	chr12:118497200-118498400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:118497200-118498400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:118497200-118498600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:118497200-118500400	Active TSS	HSMMtube	muscle
28	chr12:118497200-118500800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:118497200-118501200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:118497400-118498000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:118497400-118498000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:118497400-118498000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:118497400-118498000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr12:118497400-118498000	Active TSS	Right Atrium	heart
35	chr12:118497400-118498000	Flanking Active TSS	HepG2	liver
36	chr12:118497400-118498000	Flanking Active TSS	HSMM	muscle
37	chr12:118497400-118498200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr12:118497400-118498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:118497400-118498200	Flanking Active TSS	Hela-S3	cervix
40	chr12:118497400-118498400	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr12:118497400-118498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:118497400-118498400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:118497400-118498400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr12:118497400-118498400	Flanking Active TSS	Liver	Liver
45	chr12:118497400-118498400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr12:118497400-118498400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr12:118497400-118498400	Flanking Active TSS	Fetal Lung	lung
48	chr12:118497400-118498400	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr12:118497400-118498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr12:118497400-118498400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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