Variant report

Variant	esv1831295
Chromosome Location	chr2:52749119-52784752
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: 647 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565362667	chr2:52749132-52749133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559358267	chr2:52749168-52749169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59751172	chr2:52749184-52749185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561252103	chr2:52749245-52749246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530291882	chr2:52749256-52749257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550439680	chr2:52749275-52749276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184229476	chr2:52749326-52749327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531315414	chr2:52749371-52749372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187426470	chr2:52749374-52749375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571335760	chr2:52749377-52749378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143467554	chr2:52749382-52749383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368534291	chr2:52749399-52749400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553966751	chr2:52749454-52749455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9309231	chr2:52749459-52749460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563721968	chr2:52749462-52749463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201492193	chr2:52749485-52749486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536595661	chr2:52749539-52749540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556400720	chr2:52749554-52749555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576392512	chr2:52749558-52749559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77334392	chr2:52749573-52749574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528039149	chr2:52749594-52749595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369995469	chr2:52749596-52749597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76679011	chr2:52754047-52754048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115347038	chr2:52754065-52754066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369055295	chr2:52754067-52754068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72894832	chr2:52754074-52754075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189238370	chr2:52754117-52754118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576412128	chr2:52754122-52754123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577966544	chr2:52754171-52754172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540641254	chr2:52754188-52754189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74944517	chr2:52754198-52754199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565546332	chr2:52754201-52754202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141624054	chr2:52754202-52754203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542787613	chr2:52754207-52754208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72894833	chr2:52754249-52754250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180998921	chr2:52754291-52754292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72894834	chr2:52754294-52754295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184898972	chr2:52754343-52754344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528017607	chr2:52754389-52754390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547681400	chr2:52754406-52754407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145502553	chr2:52754428-52754429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528867556	chr2:52754442-52754443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528963232	chr2:52754443-52754444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549086556	chr2:52754458-52754459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568907364	chr2:52754473-52754474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189618321	chr2:52754478-52754479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116624056	chr2:52754485-52754486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571459052	chr2:52754491-52754492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138025848	chr2:52754504-52754505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200589686	chr2:52754553-52754554	Enhancers	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:52759400-52760600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:52760000-52760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:52760400-52761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:52761400-52764200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:52764200-52764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:52764400-52764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:52764800-52765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:52764800-52766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:52765800-52766400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:52766000-52766400	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:52766000-52766400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:52766200-52767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:52766400-52767600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:52766400-52767800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:52766600-52767200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:52766800-52767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:52766800-52767400	Enhancers	NH-A	brain
25	chr2:52767600-52768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:52773000-52773400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:52784600-52785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:52784600-52786200	Enhancers	HUES48 Cell Line	embryonic stem cell

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