Variant report

Variant	rs558763614
Chromosome Location	chr12:122709991-122709992
allele	-/A
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122709035..122711225-chr12:122749359..122751433,5	MCF-7	breast:
3	chr12:122707574..122711015-chr12:122711233..122714440,3	K562	blood:
4	chr12:122674327..122677306-chr12:122708798..122710323,2	K562	blood:
5	chr12:122709020..122710648-chr12:122761773..122763622,2	MCF-7	breast:
6	chr12:110906213..110906741-chr12:122709976..122710701,2	Hela-S3	cervix:
7	chr1:150208031..150209020-chr12:122709773..122710769,2	Hela-S3	cervix:
8	chr12:122326249..122328617-chr12:122709300..122711997,3	K562	blood:
9	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
10	chr12:122708733..122710443-chr12:122749529..122751425,2	MCF-7	breast:
11	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
12	chr12:122500582..122502738-chr12:122708130..122710378,2	K562	blood:
13	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
14	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
15	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
16	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
17	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
18	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
19	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000111231	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000184047	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	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv3436338	chr12:122709824-122712372	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr12:122709000-122710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:122709000-122710200	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr12:122709000-122710200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr12:122709000-122710600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr12:122709200-122710000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr12:122709200-122710000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122709200-122710000	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr12:122709200-122710000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:122709200-122710200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:122709200-122710400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr12:122709200-122710800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:122709200-122711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:122709200-122711400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:122709200-122711400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:122709200-122711400	Active TSS	Fetal Kidney	kidney
16	chr12:122709200-122711400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:122709400-122710000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:122709400-122710000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr12:122709400-122710000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr12:122709400-122710000	Active TSS	HepG2	liver
21	chr12:122709400-122710200	Flanking Active TSS	Placenta	Placenta
22	chr12:122709400-122710200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:122709400-122710200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:122709400-122710600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:122709400-122710600	Active TSS	HSMMtube	muscle
26	chr12:122709400-122711000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:122709400-122711000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:122709400-122711000	Active TSS	HMEC	breast
29	chr12:122709400-122711000	Active TSS	HSMM	muscle
30	chr12:122709400-122711000	Active TSS	NHLF	lung
31	chr12:122709400-122711200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:122709400-122711200	Active TSS	NHDF-Ad	bronchial
33	chr12:122709400-122711400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:122709400-122711400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr12:122709400-122711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:122709400-122711400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:122709400-122711600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:122709600-122710000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:122709600-122710000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:122709600-122710000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:122709600-122710000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:122709600-122710000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:122709600-122710000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:122709600-122710000	Flanking Active TSS	Fetal Lung	lung
45	chr12:122709600-122710000	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr12:122709600-122710000	Flanking Active TSS	Fetal Stomach	stomach
47	chr12:122709600-122710000	Weak transcription	Stomach Mucosa	stomach
48	chr12:122709600-122710000	Flanking Active TSS	Thymus	Thymus
49	chr12:122709600-122710200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:122709600-122710200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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