Variant report

Variant	nsv1012767
Chromosome Location	chr2:52741737-52781283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-9	chr2:52778477-52778840	l_1835_chr2:52771950-52778840_testes
2	lnc-ASB3-9	chr2:52771951-52772275	l_1835_chr2:52771950-52778840_testes

Extended variants
information (count: 1002 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7590582	chr2:52741737-52741738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548090438	chr2:52741757-52741758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561585003	chr2:52741786-52741787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376127127	chr2:52741809-52741810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2356193	chr2:52741816-52741817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550487437	chr2:52741830-52741831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570400644	chr2:52741864-52741865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111869129	chr2:52741893-52741894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539468252	chr2:52741901-52741902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546946808	chr2:52741911-52741912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148104430	chr2:52741915-52741916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553293563	chr2:52741971-52741972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535904391	chr2:52741973-52741974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555889774	chr2:52741976-52741977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575957136	chr2:52741989-52741990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550751645	chr2:52742082-52742083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569129441	chr2:52742087-52742088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578175411	chr2:52742091-52742092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545483696	chr2:52742120-52742121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188104619	chr2:52742129-52742130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74718506	chr2:52742183-52742184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76749682	chr2:52742206-52742207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541570397	chr2:52742207-52742208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141054350	chr2:52742225-52742226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530650326	chr2:52742242-52742243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117969188	chr2:52742248-52742249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564063927	chr2:52742335-52742336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191426151	chr2:52742373-52742374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546689527	chr2:52742374-52742375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566898912	chr2:52742384-52742385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554604511	chr2:52742386-52742387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529271041	chr2:52742399-52742400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77621806	chr2:52742431-52742432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539792866	chr2:52742434-52742435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558972353	chr2:52742504-52742505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76217276	chr2:52742512-52742513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368912932	chr2:52742531-52742532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371877478	chr2:52742532-52742533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558335624	chr2:52742543-52742544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113851438	chr2:52742549-52742550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571854624	chr2:52742550-52742551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150238983	chr2:52742611-52742612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554165069	chr2:52742618-52742619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78837919	chr2:52742656-52742657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138964241	chr2:52742662-52742663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10207765	chr2:52742674-52742675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574969527	chr2:52742715-52742716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375253574	chr2:52742762-52742763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183944709	chr2:52742766-52742767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367877095	chr2:52742793-52742794	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52736600-52746600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:52746400-52746600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:52746400-52746800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:52746600-52746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:52746600-52747600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:52746600-52748400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:52746800-52747200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:52746800-52747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:52746800-52748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:52747200-52748000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:52747200-52748200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:52747200-52748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:52747400-52747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:52747400-52748000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:52747600-52748000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:52747600-52748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:52747600-52748400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52759400-52760600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:52760000-52760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:52760400-52761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:52761400-52764200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:52764200-52764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:52764400-52764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:52764800-52765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:52764800-52766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:52765800-52766400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:52766000-52766400	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:52766000-52766400	Enhancers	Fetal Muscle Leg	muscle
36	chr2:52766200-52767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:52766400-52767600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:52766400-52767800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:52766600-52767200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:52766800-52767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:52766800-52767400	Enhancers	NH-A	brain
42	chr2:52767600-52768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:52773000-52773400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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