Variant report

Variant	nsv9991
Chromosome Location	chr2:67323572-67329271
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	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:
2	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-15	chr2:67323915-67323997	NONHSAT071260
2	lnc-ETAA1-15	chr2:67324948-67325210	NONHSAT071260

Extended variants
information (count: 134 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532908323	chr2:67323657-67323658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372193042	chr2:67323706-67323707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543547722	chr2:67323726-67323727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188014553	chr2:67323731-67323732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529288126	chr2:67323797-67323798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139767844	chr2:67323857-67323858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193088499	chr2:67323866-67323867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527545548	chr2:67323891-67323892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547712461	chr2:67323964-67323965	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559681515	chr2:67323966-67323967	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570552561	chr2:67323970-67323971	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs376346677	chr2:67323978-67323979	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78299583	chr2:67323984-67323985	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549596327	chr2:67324005-67324006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569378831	chr2:67324040-67324041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535196236	chr2:67324068-67324069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554897214	chr2:67324101-67324102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571716958	chr2:67324118-67324119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145293887	chr2:67324138-67324139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368221613	chr2:67324185-67324186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534997140	chr2:67324197-67324198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570847226	chr2:67324212-67324213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115218515	chr2:67324274-67324275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75806040	chr2:67324348-67324349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563886423	chr2:67324467-67324468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574150568	chr2:67324468-67324469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543145233	chr2:67324482-67324483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370390053	chr2:67324490-67324491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183622626	chr2:67324513-67324514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528545522	chr2:67324522-67324523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547355443	chr2:67324528-67324529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13426984	chr2:67324563-67324564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527243370	chr2:67324567-67324568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565618654	chr2:67324570-67324571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373771501	chr2:67324600-67324601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201056581	chr2:67324601-67324602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11891629	chr2:67324643-67324644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548551706	chr2:67324752-67324753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549920523	chr2:67324799-67324800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11902384	chr2:67324803-67324804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs73937650	chr2:67324876-67324877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548708310	chr2:67324896-67324897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13427203	chr2:67324901-67324902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534641306	chr2:67324917-67324918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558149144	chr2:67324992-67324993	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs578169331	chr2:67325006-67325007	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375640227	chr2:67325020-67325021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs140819944	chr2:67325021-67325022	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs143992614	chr2:67325109-67325110	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs376423964	chr2:67325110-67325111	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67322000-67323800	Enhancers	Fetal Lung	lung
2	chr2:67322200-67324200	Enhancers	Colon Smooth Muscle	Colon
3	chr2:67322200-67324200	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:67323400-67324200	Enhancers	Fetal Kidney	kidney
5	chr2:67324200-67326200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:67324200-67326400	Weak transcription	Fetal Kidney	kidney
7	chr2:67324200-67326600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:67326200-67327200	Enhancers	Colon Smooth Muscle	Colon
9	chr2:67326600-67326800	Enhancers	Fetal Kidney	kidney
10	chr2:67326600-67327000	Enhancers	Rectal Smooth Muscle	rectum

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