Variant report

Variant	nsv581934
Chromosome Location	chr2:52747754-52785181
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	chr2:52771951-52772275	l_1835_chr2:52771950-52778840_testes
2	lnc-ASB3-9	chr2:52778477-52778840	l_1835_chr2:52771950-52778840_testes

Extended variants
information (count: 743 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6715457	chr2:52747754-52747755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151033473	chr2:52747772-52747773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74497887	chr2:52747785-52747786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190139050	chr2:52747802-52747803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56143595	chr2:52747830-52747831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535217770	chr2:52747849-52747850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555021457	chr2:52747850-52747851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575432366	chr2:52747851-52747852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544044862	chr2:52747852-52747853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564430628	chr2:52747884-52747885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564485874	chr2:52747892-52747893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577813422	chr2:52747935-52747936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139824176	chr2:52747955-52747956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560512489	chr2:52748025-52748026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529304248	chr2:52748048-52748049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549531548	chr2:52748052-52748053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58186619	chr2:52748074-52748075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370998576	chr2:52748107-52748108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182734015	chr2:52748133-52748134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551635755	chr2:52748168-52748169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149799795	chr2:52748169-52748170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187267344	chr2:52748181-52748182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191010573	chr2:52748186-52748187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566157234	chr2:52748224-52748225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535069432	chr2:52748231-52748232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72894810	chr2:52748235-52748236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566774762	chr2:52748238-52748239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147893238	chr2:52748269-52748270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553346734	chr2:52748298-52748299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549154606	chr2:52748352-52748353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113211023	chr2:52748393-52748394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7557580	chr2:52748425-52748426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557627315	chr2:52748432-52748433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77908048	chr2:52748436-52748437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112755084	chr2:52748496-52748497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115576315	chr2:52748516-52748517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111703155	chr2:52748518-52748519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374790207	chr2:52748531-52748532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546114948	chr2:52748536-52748537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113996774	chr2:52748612-52748613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370708904	chr2:52748651-52748652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563001610	chr2:52748653-52748654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7570162	chr2:52748688-52748689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7596696	chr2:52748692-52748693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7557874	chr2:52748701-52748702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs373674102	chr2:52748732-52748733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7570257	chr2:52748769-52748770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547716057	chr2:52748773-52748774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567586660	chr2:52748786-52748787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528882257	chr2:52748808-52748809	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	chr2:52746600-52748400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:52746800-52748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:52747200-52748000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:52747200-52748200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:52747200-52748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:52747400-52747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:52747400-52748000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:52747600-52748000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:52747600-52748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:52747600-52748400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:52759400-52760600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:52760000-52760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:52760400-52761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:52761400-52764200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:52764200-52764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:52764400-52764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:52764800-52765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52764800-52766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:52765800-52766400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:52766000-52766400	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:52766000-52766400	Enhancers	Fetal Muscle Leg	muscle
29	chr2:52766200-52767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:52766400-52767600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:52766400-52767800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:52766600-52767200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:52766800-52767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:52766800-52767400	Enhancers	NH-A	brain
35	chr2:52767600-52768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:52773000-52773400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:52784600-52785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:52784600-52786200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:52784800-52786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:52784800-52786400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:52785000-52785200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:52785000-52785400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:52785000-52786200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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