Variant report

Variant	nsv826217
Chromosome Location	chr12:7771464-7790366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:7368777..7371276-chr12:7789054..7791793,2	MCF-7	breast:
2	chr12:7785661..7787296-chr12:7958245..7961143,2	K562	blood:
3	chr12:7052745..7054804-chr12:7789999..7792539,2	K562	blood:
4	chr12:7770562..7771464-chr12:7790685..7791995,3	MCF-7	breast:
5	chr12:7052361..7055203-chr12:7790062..7793106,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238923	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000272173	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1833148	chr12:7774680-7774681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188368524	chr12:7774704-7774705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138843596	chr12:7774712-7774713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555272063	chr12:7774751-7774752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375220606	chr12:7774781-7774782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375635509	chr12:7774813-7774814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142043222	chr12:7774815-7774816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150401458	chr12:7774871-7774872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370202248	chr12:7774879-7774880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371835995	chr12:7774891-7774892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1419980	chr12:7774892-7774893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74528383	chr12:7774981-7774982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192247950	chr12:7774992-7774993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182246738	chr12:7775038-7775039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142593927	chr12:7775196-7775197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187624194	chr12:7775204-7775205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73054713	chr12:7775301-7775302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138174862	chr12:7775339-7775340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11054905	chr12:7775367-7775368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2889549	chr12:7775393-7775394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369648080	chr12:7775484-7775485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535006809	chr12:7775544-7775545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11054908	chr12:7775552-7775553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192505809	chr12:7775592-7775593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184197596	chr12:7775605-7775606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11054909	chr12:7775627-7775628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141038513	chr12:7775731-7775732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144491821	chr12:7775799-7775800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189944641	chr12:7775828-7775829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373428502	chr12:7775845-7775846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143170100	chr12:7775902-7775903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193199815	chr12:7775936-7775937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184665234	chr12:7775965-7775966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147511689	chr12:7776022-7776023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140400091	chr12:7776053-7776054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142136786	chr12:7776151-7776152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549697767	chr12:7776161-7776162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151139707	chr12:7776194-7776195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7295712	chr12:7776199-7776200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7301670	chr12:7776207-7776208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377269741	chr12:7776233-7776234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531246083	chr12:7776239-7776240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555403477	chr12:7776259-7776260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146506312	chr12:7776260-7776261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2159977	chr12:7776285-7776286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189985859	chr12:7776286-7776287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371751582	chr12:7776319-7776320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12228958	chr12:7776321-7776322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141121148	chr12:7776322-7776323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144726714	chr12:7776342-7776343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7774600-7777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:7775600-7791600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:7777000-7777200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:7777200-7777400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:7777200-7777600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:7777200-7777600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:7777400-7780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:7777600-7778400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:7777600-7781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:7778400-7779200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:7779000-7779200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:7779200-7779400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:7779200-7779600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:7779600-7782600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:7780400-7780600	Enhancers	Placenta	Placenta
16	chr12:7780400-7781600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:7780600-7780800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:7780600-7780800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr12:7780600-7780800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:7780600-7781200	Flanking Active TSS	Placenta	Placenta
21	chr12:7780600-7781800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:7780800-7781000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:7780800-7781000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr12:7780800-7781000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:7780800-7781200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:7780800-7781200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:7780800-7781200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:7780800-7781200	Active TSS	Primary T cells from cord blood	blood
29	chr12:7780800-7781600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:7780800-7781800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:7780800-7781800	Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:7780800-7781800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:7780800-7781800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr12:7781000-7781200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:7781000-7781200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:7781000-7781200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:7781000-7781200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:7781000-7781200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr12:7781000-7781200	Enhancers	Fetal Thymus	thymus
40	chr12:7781000-7781200	Enhancers	Gastric	stomach
41	chr12:7781000-7781200	Bivalent Enhancer	Right Ventricle	heart
42	chr12:7781000-7781600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:7781000-7781600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:7781000-7781800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:7781200-7781400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:7781200-7781400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:7781200-7781400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:7781200-7781600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:7781200-7781600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:7781200-7781600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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