Variant report

Variant	nsv1011879
Chromosome Location	chr2:52737183-52759103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 828 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7575049	chr2:52737183-52737184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144399472	chr2:52737195-52737196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549325261	chr2:52737224-52737225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569255233	chr2:52737235-52737236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538301858	chr2:52737255-52737256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190585506	chr2:52737258-52737259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73931362	chr2:52737295-52737296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534371591	chr2:52737300-52737301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554204198	chr2:52737303-52737304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559883853	chr2:52737313-52737314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371217558	chr2:52737323-52737324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574902418	chr2:52737341-52737342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76378516	chr2:52737345-52737346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575002687	chr2:52737383-52737384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543941948	chr2:52737395-52737396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563833775	chr2:52737399-52737400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181697087	chr2:52737403-52737404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553992506	chr2:52737408-52737409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546756863	chr2:52737418-52737419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186338961	chr2:52737433-52737434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542432922	chr2:52737468-52737469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191585947	chr2:52737472-52737473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529158367	chr2:52737478-52737479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182393506	chr2:52737482-52737483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187881722	chr2:52737515-52737516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561528299	chr2:52737520-52737521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563593073	chr2:52737521-52737522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140601786	chr2:52737528-52737529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566243160	chr2:52737529-52737530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567554447	chr2:52737531-52737532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116007996	chr2:52737550-52737551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191844150	chr2:52737559-52737560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575217295	chr2:52737569-52737570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148788897	chr2:52737581-52737582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370612018	chr2:52737582-52737583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567870591	chr2:52737587-52737588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368140566	chr2:52737602-52737603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143444578	chr2:52737626-52737627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375317507	chr2:52737631-52737632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552348792	chr2:52737644-52737645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13410979	chr2:52737658-52737659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563952958	chr2:52737686-52737687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557463637	chr2:52737758-52737759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577283351	chr2:52737771-52737772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183178689	chr2:52737780-52737781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531297164	chr2:52737790-52737791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560253350	chr2:52737804-52737805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529069427	chr2:52737817-52737818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367616813	chr2:52737836-52737837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551487022	chr2:52737838-52737839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52736600-52739800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:52736600-52746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:52739800-52740200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:52746400-52746600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52746400-52746800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:52746600-52746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:52746600-52747600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:52746600-52748400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:52746800-52747200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:52746800-52747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:52746800-52748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:52747200-52748000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:52747200-52748200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:52747200-52748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:52747400-52747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:52747400-52748000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:52747600-52748000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:52747600-52748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:52747600-52748400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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