Variant report

Variant	nsv892022
Chromosome Location	chr9:1341674-1428059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
2	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
3	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
4	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-6	chr9:1368147-1368400	NONHSAT129976
2	lnc-DMRT2-6	chr9:1354235-1354272	NONHSAT129976

Extended variants
information (count: 2794 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2794 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540482922	chr9:1349222-1349223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62531700	chr9:1349237-1349238	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs620753	chr9:1349240-1349241	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs672423	chr9:1349243-1349244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561612369	chr9:1349287-1349288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559270462	chr9:1349294-1349295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530554918	chr9:1349324-1349325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148946980	chr9:1349330-1349331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79375135	chr9:1349331-1349332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375209190	chr9:1349348-1349349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543247672	chr9:1349355-1349356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143132155	chr9:1349365-1349366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546870522	chr9:1349373-1349374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566681862	chr9:1349379-1349380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535263808	chr9:1349401-1349402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77813922	chr9:1349412-1349413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569233004	chr9:1349445-1349446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183001454	chr9:1349455-1349456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185955874	chr9:1349497-1349498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146327777	chr9:1349501-1349502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551677048	chr9:1349522-1349523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545446435	chr9:1349561-1349562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558946354	chr9:1349584-1349585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571597342	chr9:1349679-1349680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190858997	chr9:1349697-1349698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554010230	chr9:1349699-1349700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140418927	chr9:1349700-1349701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542830636	chr9:1349712-1349713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147004861	chr9:1349732-1349733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74592184	chr9:1349755-1349756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550796736	chr9:1349757-1349758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78692254	chr9:1349797-1349798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79460444	chr9:1349826-1349827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183929744	chr9:1349842-1349843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536709745	chr9:1349861-1349862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78893335	chr9:1349898-1349899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560175313	chr9:1349923-1349924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529115963	chr9:1349969-1349970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548904260	chr9:1350004-1350005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568990930	chr9:1350059-1350060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537950943	chr9:1350088-1350089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9406458	chr9:1350093-1350094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571321304	chr9:1350095-1350096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533916507	chr9:1350110-1350111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554476676	chr9:1350112-1350113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187619497	chr9:1350124-1350125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137943197	chr9:1350142-1350143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538682146	chr9:1350227-1350228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558814979	chr9:1350233-1350234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143436187	chr9:1350261-1350262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1349200-1349800	Enhancers	Adipose Nuclei	Adipose
2	chr9:1349800-1354600	Weak transcription	Adipose Nuclei	Adipose
3	chr9:1354200-1354600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:1354400-1356800	Enhancers	HSMMtube	muscle
5	chr9:1354600-1355200	Enhancers	HSMM	muscle
6	chr9:1354600-1356000	Enhancers	Adipose Nuclei	Adipose
7	chr9:1354800-1356000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1356000-1362800	Weak transcription	Adipose Nuclei	Adipose
9	chr9:1362400-1363000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:1362800-1363200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:1362800-1363200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:1362800-1363200	Enhancers	Adipose Nuclei	Adipose
13	chr9:1364400-1367000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr9:1365000-1367400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:1365600-1366400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr9:1366600-1367400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:1373400-1373600	Enhancers	Adipose Nuclei	Adipose
18	chr9:1373600-1384000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:1374000-1374400	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1374400-1377200	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:1377200-1378200	Enhancers	Fetal Muscle Leg	muscle
22	chr9:1377400-1377800	Enhancers	Psoas Muscle	Psoas
23	chr9:1378000-1378400	Enhancers	Psoas Muscle	Psoas
24	chr9:1378200-1384000	Weak transcription	Fetal Muscle Leg	muscle
25	chr9:1379600-1384800	Weak transcription	Psoas Muscle	Psoas
26	chr9:1383600-1385400	Enhancers	Fetal Lung	lung
27	chr9:1384000-1384200	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1384000-1386200	Enhancers	Adipose Nuclei	Adipose
29	chr9:1384200-1385000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:1384200-1386400	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:1384800-1385000	Enhancers	Psoas Muscle	Psoas
32	chr9:1386200-1387800	Weak transcription	Adipose Nuclei	Adipose
33	chr9:1386400-1386800	Enhancers	Fetal Muscle Leg	muscle
34	chr9:1387800-1388000	Enhancers	Adipose Nuclei	Adipose
35	chr9:1401600-1401800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr9:1401600-1402400	Enhancers	Brain Cingulate Gyrus	brain
37	chr9:1401600-1402400	Enhancers	Brain Substantia Nigra	brain
38	chr9:1401800-1402800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:1402000-1402400	Enhancers	Brain Hippocampus Middle	brain
40	chr9:1402400-1402800	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:1402400-1403200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:1402400-1403400	Weak transcription	Brain Substantia Nigra	brain
43	chr9:1402800-1403400	Enhancers	Brain Hippocampus Middle	brain
44	chr9:1402800-1403600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr9:1403000-1403400	Enhancers	Brain Angular Gyrus	brain
46	chr9:1403200-1403400	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:1403400-1403600	Enhancers	Brain Substantia Nigra	brain
48	chr9:1404600-1405200	Enhancers	Psoas Muscle	Psoas
49	chr9:1404600-1406400	Enhancers	Fetal Muscle Leg	muscle
50	chr9:1412000-1412200	Enhancers	Sigmoid Colon	Sigmoid Colon

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