Variant report

Variant	rs530872002
Chromosome Location	chr12:122710498-122710499
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr12:122709020..122710648-chr12:122761773..122763622,2	MCF-7	breast:
5	chr12:110906213..110906741-chr12:122709976..122710701,2	Hela-S3	cervix:
6	chr1:150208031..150209020-chr12:122709773..122710769,2	Hela-S3	cervix:
7	chr12:122326249..122328617-chr12:122709300..122711997,3	K562	blood:
8	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
9	chr12:122237205..122238947-chr12:122709096..122710729,2	K562	blood:
10	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
11	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
12	chr12:122708927..122712282-chr12:122984043..122986704,3	K562	blood:
13	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
14	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
15	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
16	chr12:122709233..122712275-chr12:123010129..123013029,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000184445	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000111231	Chromatin interaction
ENSG00000256950	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	chr12:122709000-122710600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr12:122709200-122710800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:122709200-122711200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:122709200-122711400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr12:122709200-122711400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr12:122709200-122711400	Active TSS	Fetal Kidney	kidney
7	chr12:122709200-122711400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:122709400-122710600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:122709400-122710600	Active TSS	HSMMtube	muscle
10	chr12:122709400-122711000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr12:122709400-122711000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr12:122709400-122711000	Active TSS	HMEC	breast
13	chr12:122709400-122711000	Active TSS	HSMM	muscle
14	chr12:122709400-122711000	Active TSS	NHLF	lung
15	chr12:122709400-122711200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr12:122709400-122711200	Active TSS	NHDF-Ad	bronchial
17	chr12:122709400-122711400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:122709400-122711400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:122709400-122711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:122709400-122711400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:122709400-122711600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:122709600-122710600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122709600-122710800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:122709600-122711000	Active TSS	H1 Cell Line	embryonic stem cell
25	chr12:122709600-122711000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:122709600-122711000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:122709600-122711000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:122709600-122711000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:122709600-122711000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:122709600-122711000	Weak transcription	Fetal Heart	heart
31	chr12:122709600-122711000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:122709600-122711000	Active TSS	Right Atrium	heart
33	chr12:122709600-122711000	Active TSS	Right Ventricle	heart
34	chr12:122709600-122711000	Active TSS	GM12878-XiMat	blood
35	chr12:122709600-122711000	Active TSS	K562	blood
36	chr12:122709600-122711000	Active TSS	NHEK	skin
37	chr12:122709600-122711200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:122709600-122711200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:122709600-122711200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:122709600-122711200	Active TSS	Ovary	ovary
41	chr12:122709600-122711200	Active TSS	Psoas Muscle	Psoas
42	chr12:122709600-122711200	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:122709600-122711200	Active TSS	A549	lung
44	chr12:122709600-122711200	Active TSS	Hela-S3	cervix
45	chr12:122709600-122711200	Active TSS	NH-A	brain
46	chr12:122709600-122711200	Active TSS	Osteobl	bone
47	chr12:122709800-122710600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:122709800-122710600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:122709800-122710600	Active TSS	Fetal Intestine Small	intestine
50	chr12:122709800-122710600	Active TSS	Sigmoid Colon	Sigmoid Colon

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