Variant report

Variant	nsv1045846
Chromosome Location	chr12:22244071-22254722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22241159..22243992-chr12:22244769..22247704,2	K562	blood:
2	chr12:22254683..22255197-chr12:22488123..22488913,2	MCF-7	breast:
3	chr12:22233451..22235429-chr12:22242866..22245840,2	K562	blood:
4	chr12:22253611..22254718-chr12:22488160..22489046,5	MCF-7	breast:
5	chr12:22254001..22254637-chr12:22488215..22489048,2	MCF-7	breast:
6	chr12:22254309..22254859-chr12:22325837..22326339,2	MCF-7	breast:
7	chr12:22253691..22254460-chr12:22596324..22596916,2	MCF-7	breast:

Extended variants
information (count: 343 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546868382	chr12:22245701-22245702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149788718	chr12:22245718-22245719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566779275	chr12:22245745-22245746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532309169	chr12:22245846-22245847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190146457	chr12:22245858-22245859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10841941	chr12:22245880-22245881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs569401607	chr12:22245903-22245904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11046300	chr12:22245928-22245929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557212971	chr12:22245929-22245930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567605482	chr12:22245944-22245945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536256795	chr12:22246024-22246025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370043795	chr12:22246086-22246087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375508212	chr12:22246087-22246088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181588338	chr12:22246088-22246089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145962228	chr12:22246158-22246159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56082170	chr12:22246205-22246206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397703642	chr12:22246213-22246214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139884621	chr12:22246222-22246223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184357479	chr12:22246267-22246268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540796910	chr12:22246317-22246318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140518322	chr12:22246319-22246320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373581108	chr12:22246334-22246335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575791445	chr12:22246342-22246343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544294148	chr12:22246357-22246358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560821482	chr12:22246384-22246385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7970672	chr12:22246462-22246463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540246139	chr12:22246485-22246486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143287218	chr12:22246522-22246523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532426105	chr12:22246524-22246525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552222325	chr12:22246530-22246531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564794363	chr12:22246543-22246544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536011903	chr12:22246557-22246558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569023402	chr12:22246558-22246559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145551175	chr12:22246600-22246601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534391565	chr12:22246601-22246602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148877739	chr12:22246614-22246615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370625074	chr12:22246620-22246621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567437453	chr12:22246663-22246664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188739424	chr12:22246668-22246669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181164212	chr12:22246701-22246702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7970945	chr12:22246702-22246703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10841942	chr12:22246777-22246778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541743635	chr12:22246801-22246802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558529596	chr12:22246807-22246808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559035186	chr12:22246859-22246860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370560327	chr12:22246905-22246906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374284397	chr12:22246907-22246908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575748302	chr12:22246940-22246941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142652327	chr12:22246961-22246962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554613588	chr12:22246990-22246991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22245600-22246800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:22246600-22246800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:22246800-22249800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:22249200-22254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:22252000-22254200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:22252400-22253000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:22253000-22254200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:22253600-22254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:22253600-22255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:22253600-22255800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:22253600-22256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:22253800-22254200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:22253800-22255000	Enhancers	NHEK	skin
14	chr12:22253800-22255200	Enhancers	Primary T cells from cord blood	blood
15	chr12:22253800-22255400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:22253800-22255400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:22253800-22256400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:22254000-22254200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:22254000-22254800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:22254000-22254800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:22254000-22255000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:22254000-22255000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:22254000-22255200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:22254000-22255200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:22254000-22255200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:22254000-22255200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:22254000-22255400	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:22254000-22255400	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:22254000-22255400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:22254000-22255400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:22254000-22255600	Enhancers	Brain Anterior Caudate	brain
32	chr12:22254000-22255800	Enhancers	Brain Hippocampus Middle	brain
33	chr12:22254000-22256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:22254200-22254400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:22254200-22254400	Enhancers	Gastric	stomach
36	chr12:22254200-22254600	Enhancers	Osteobl	bone
37	chr12:22254200-22254800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:22254200-22255000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:22254200-22255000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:22254200-22255000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:22254200-22255000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr12:22254200-22255200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:22254200-22255200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:22254200-22255200	Enhancers	GM12878-XiMat	blood
45	chr12:22254200-22255400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:22254200-22255400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:22254200-22255400	Enhancers	Right Atrium	heart
48	chr12:22254200-22255400	Enhancers	HUVEC	blood vessel
49	chr12:22254200-22255400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:22254200-22255400	Enhancers	NHLF	lung

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