Variant report

Variant	rs542712142
Chromosome Location	chr12:123586163-123586164
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123570325..123572939-chr12:123584835..123587723,2	K562	blood:
2	chr12:123584390..123586584-chr12:123592815..123595432,2	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
5	chr12:123570800-123586600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123571000-123586600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
8	chr12:123574400-123586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
11	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:123577200-123586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:123579400-123586200	Enhancers	Fetal Brain Female	brain
16	chr12:123579800-123586600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:123579800-123586800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
19	chr12:123579800-123596200	Weak transcription	Osteobl	bone
20	chr12:123580000-123589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:123580000-123589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:123580000-123592600	Weak transcription	NHEK	skin
23	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:123580200-123586600	Weak transcription	K562	blood
25	chr12:123580200-123587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:123580200-123587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:123580200-123589600	Weak transcription	Spleen	Spleen
28	chr12:123580200-123589600	Weak transcription	HMEC	breast
29	chr12:123580200-123590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:123580400-123586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:123580800-123587000	Weak transcription	Hela-S3	cervix
34	chr12:123581000-123586600	Weak transcription	Primary T cells from cord blood	blood
35	chr12:123581000-123589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:123581000-123590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:123581000-123593000	Weak transcription	Pancreas	Pancrea
38	chr12:123581200-123586200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:123581200-123586600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123581200-123586600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:123581200-123586800	Weak transcription	A549	lung
42	chr12:123581200-123587600	Weak transcription	Esophagus	oesophagus
43	chr12:123581200-123593000	Weak transcription	Brain Germinal Matrix	brain
44	chr12:123581400-123586600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:123581400-123586800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:123581400-123591600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:123581600-123586600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:123582200-123591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:123582600-123591200	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:123582800-123589400	Weak transcription	Placenta	Placenta

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