Variant report

Variant	nsv826219
Chromosome Location	chr12:7777338-7787303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:7785661..7787296-chr12:7958245..7961143,2	K562	blood:

Extended variants
information (count: 269 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141822536	chr12:7777439-7777440	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12812041	chr12:7777492-7777493	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185399806	chr12:7777535-7777536	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531083882	chr12:7777582-7777583	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551274555	chr12:7777594-7777595	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564510601	chr12:7777606-7777607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189294774	chr12:7777635-7777636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10845548	chr12:7777657-7777658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181956921	chr12:7777698-7777699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186570686	chr12:7777712-7777713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386760003	chr12:7777726-7777727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202095109	chr12:7777728-7777729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371113820	chr12:7777747-7777748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191574408	chr12:7777862-7777863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529023115	chr12:7777898-7777899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61936979	chr12:7777948-7777949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116029128	chr12:7777954-7777955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183796462	chr12:7778054-7778055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11054919	chr12:7778109-7778110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558011806	chr12:7778130-7778131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150195990	chr12:7778139-7778140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571611619	chr12:7778144-7778145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553548874	chr12:7778259-7778260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186206503	chr12:7778290-7778291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571745108	chr12:7778303-7778304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191496489	chr12:7778365-7778366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537445521	chr12:7778388-7778389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367928838	chr12:7778400-7778401	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs36090482	chr12:7778467-7778468	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs118041537	chr12:7778524-7778525	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182040759	chr12:7778546-7778547	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568854721	chr12:7778682-7778683	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574401727	chr12:7778840-7778841	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186686962	chr12:7778868-7778869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs143366231	chr12:7778921-7778922	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191440036	chr12:7778951-7778952	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368626901	chr12:7778986-7778987	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs115693443	chr12:7779016-7779017	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553507113	chr12:7779038-7779039	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372354040	chr12:7779060-7779061	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375794882	chr12:7779153-7779154	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12829339	chr12:7779227-7779228	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11054921	chr12:7779240-7779241	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7296689	chr12:7779241-7779242	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6488529	chr12:7779288-7779289	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538488769	chr12:7779349-7779350	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79520392	chr12:7779617-7779618	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs189163566	chr12:7779652-7779653	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112285086	chr12:7779743-7779744	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140122594	chr12:7779784-7779785	Weak transcription Active TSS	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:62 , 50 per page) page: 1 2

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

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