Variant report

Variant	nsv874374
Chromosome Location	chr2:79198620-79236614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:78578454..78579130-chr2:79226516..79227199,2	MCF-7	breast:
2	chr2:78658404..78659062-chr2:79206498..79207224,3	MCF-7	breast:
3	chr2:78578299..78578916-chr2:79206809..79207351,2	MCF-7	breast:
4	chr2:78898994..78900712-chr2:79206429..79207134,5	MCF-7	breast:
5	chr2:79219262..79219850-chr2:79446247..79447295,3	MCF-7	breast:
6	chr2:79219232..79220225-chr2:80087317..80087950,2	MCF-7	breast:
7	chr2:78577613..78578539-chr2:79206466..79207847,3	MCF-7	breast:

Extended variants
information (count: 1373 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11126690	chr2:79198620-79198621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71385249	chr2:79198684-79198685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72419731	chr2:79198690-79198691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199522098	chr2:79198691-79198692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113411635	chr2:79198720-79198721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540630264	chr2:79198723-79198724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189384504	chr2:79198725-79198726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181730808	chr2:79198745-79198746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34146544	chr2:79198771-79198772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35099291	chr2:79198793-79198794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549864898	chr2:79198816-79198817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563276592	chr2:79198863-79198864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200078360	chr2:79198885-79198886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76951781	chr2:79198890-79198891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552852425	chr2:79198904-79198905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185259231	chr2:79199010-79199011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139697590	chr2:79199014-79199015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113978203	chr2:79199054-79199055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147721543	chr2:79199062-79199063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568453979	chr2:79199089-79199090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537082804	chr2:79199116-79199117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189682393	chr2:79199121-79199122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77926636	chr2:79199123-79199124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76031633	chr2:79199188-79199189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79852751	chr2:79199233-79199234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375639936	chr2:79199242-79199243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35961242	chr2:79199272-79199273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183145628	chr2:79199316-79199317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562376240	chr2:79199323-79199324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113264951	chr2:79199335-79199336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79106455	chr2:79199364-79199365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201586662	chr2:79199381-79199382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553259887	chr2:79199398-79199399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75024592	chr2:79199407-79199408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568160211	chr2:79199409-79199410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563372315	chr2:79199468-79199469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186430374	chr2:79199488-79199489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191076687	chr2:79199522-79199523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139436438	chr2:79199583-79199584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548844871	chr2:79199604-79199605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77285775	chr2:79199619-79199620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527741795	chr2:79199673-79199674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183745124	chr2:79199702-79199703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149665331	chr2:79199731-79199732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570570354	chr2:79199763-79199764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552302093	chr2:79199888-79199889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145479977	chr2:79199903-79199904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535683611	chr2:79199912-79199913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564479805	chr2:79199943-79199944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148424854	chr2:79199964-79199965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79192000-79206400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:79204200-79205200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:79204200-79205200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:79204200-79205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:79204200-79206000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:79204200-79206000	Enhancers	Primary B cells from cord blood	blood
7	chr2:79204200-79206800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:79204200-79207800	Enhancers	GM12878-XiMat	blood
9	chr2:79204400-79205400	Enhancers	Primary B cells from peripheral blood	blood
10	chr2:79204400-79205400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:79204400-79205800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:79204800-79206400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:79204800-79206600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:79204800-79206600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:79205000-79206600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:79205000-79206800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:79205000-79206800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:79205200-79205400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr2:79205200-79206200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:79205200-79206800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:79205400-79206800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:79205400-79206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:79205600-79206600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:79205600-79206800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:79205800-79206800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:79205800-79206800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:79206200-79207000	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:79206400-79206800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:79206400-79206800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:79206400-79206800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:79206400-79206800	Enhancers	Colon Smooth Muscle	Colon
32	chr2:79206400-79206800	Enhancers	Fetal Kidney	kidney
33	chr2:79206400-79207000	Enhancers	Fetal Stomach	stomach
34	chr2:79206600-79206800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:79206600-79206800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:79206600-79207000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:79206600-79207200	Enhancers	Fetal Lung	lung
38	chr2:79206600-79207400	Enhancers	Fetal Brain Female	brain
39	chr2:79206800-79207000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr2:79206800-79207400	Enhancers	Brain Hippocampus Middle	brain
41	chr2:79206800-79210400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:79207000-79209800	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:79207800-79208200	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:79208000-79208200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr2:79208200-79210600	Enhancers	GM12878-XiMat	blood
46	chr2:79209800-79210400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:79210400-79211200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:79210400-79211400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:79210600-79213000	Weak transcription	GM12878-XiMat	blood
50	chr2:79211400-79211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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