Variant report

Variant	rs559285138
Chromosome Location	chr12:122907098-122907099
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122906139..122907117-chr5:43120930..43121737,2	Hela-S3	cervix:
2	chr12:122906748..122909467-chr12:123010139..123012944,2	K562	blood:
3	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
4	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
5	chr12:122906376..122908610-chr12:123005657..123008137,3	MCF-7	breast:
6	chr12:122905580..122908414-chr12:122982278..122985321,3	K562	blood:
7	chr12:122906977..122907658-chr2:38977576..38978525,2	Hela-S3	cervix:
8	chr12:122906075..122908078-chr12:122966404..122968368,2	MCF-7	breast:
9	chr12:122907059..122907795-chr19:13264855..13265538,2	Hela-S3	cervix:
10	chr12:122905434..122908389-chr12:122983902..122986310,2	K562	blood:
11	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
12	chr10:101190607..101191603-chr12:122906528..122907282,2	Hela-S3	cervix:
13	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
14	chr12:122905004..122910047-chr12:122982684..122986625,7	MCF-7	breast:
15	chr12:122883813..122884476-chr12:122906517..122907101,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224934	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000111011	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3406745	chr12:122905624-122908172	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv3438467	chr12:122906324-122908322	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122904400-122907600	Active TSS	HSMMtube	muscle
2	chr12:122905000-122907800	Active TSS	Esophagus	oesophagus
3	chr12:122905400-122908200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:122905600-122907400	Active TSS	GM12878-XiMat	blood
5	chr12:122905600-122907600	Active TSS	NHLF	lung
6	chr12:122905600-122908200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:122905600-122908200	Active TSS	Right Ventricle	heart
8	chr12:122905600-122908400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:122905600-122908400	Active TSS	Left Ventricle	heart
10	chr12:122905800-122907400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:122905800-122907400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:122905800-122907400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:122905800-122907400	Active TSS	Fetal Muscle Trunk	muscle
14	chr12:122905800-122907400	Active TSS	Placenta	Placenta
15	chr12:122905800-122907400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:122905800-122907600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:122905800-122907600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:122905800-122907600	Active TSS	Fetal Intestine Large	intestine
19	chr12:122905800-122907600	Active TSS	Pancreas	Pancrea
20	chr12:122905800-122907600	Active TSS	Placenta Amnion	Placenta Amnion
21	chr12:122905800-122907600	Active TSS	HSMM	muscle
22	chr12:122905800-122907800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:122905800-122907800	Active TSS	Aorta	Aorta
24	chr12:122905800-122907800	Active TSS	Colon Smooth Muscle	Colon
25	chr12:122905800-122907800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:122905800-122907800	Active TSS	Psoas Muscle	Psoas
27	chr12:122905800-122908000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:122905800-122908000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:122905800-122908200	Active TSS	NHDF-Ad	bronchial
30	chr12:122905800-122908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:122905800-122908600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:122906000-122907400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:122906000-122907400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:122906000-122907400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:122906000-122907400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:122906000-122907400	Active TSS	Colonic Mucosa	Colon
37	chr12:122906000-122907400	Active TSS	Stomach Mucosa	stomach
38	chr12:122906000-122907400	Active TSS	HMEC	breast
39	chr12:122906000-122907400	Active TSS	NH-A	brain
40	chr12:122906000-122907400	Active TSS	NHEK	skin
41	chr12:122906000-122907400	Active TSS	Osteobl	bone
42	chr12:122906000-122907600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:122906000-122907600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:122906000-122907600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr12:122906000-122907600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:122906000-122907600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:122906000-122907600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:122906000-122907600	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr12:122906000-122907600	Active TSS	Brain Anterior Caudate	brain
50	chr12:122906000-122907600	Active TSS	Brain Substantia Nigra	brain

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