Variant report

Variant	nsv1024226
Chromosome Location	chr9:1240191-1309969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
2	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
3	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast
4	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
5	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
7	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
8	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
9	lnc-DMRT2-4	chr9:1302841-1302899	l_3725_chr9:1288276-1302899_breast
10	lnc-DMRT2-2	chr9:1298276-1298431	NONHSAT129967
11	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
12	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast
13	lnc-DMRT2-4	chr9:1300940-1301032	l_3725_chr9:1288276-1302899_breast
14	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
15	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263

No data

Variant related genes	Relation type
AP2M1	miRNA target sites

Extended variants
information (count: 2343 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2343 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113575617	chr9:1240219-1240220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529054734	chr9:1240224-1240225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552582869	chr9:1240231-1240232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572492753	chr9:1240232-1240233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76153256	chr9:1240233-1240234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562255506	chr9:1240237-1240238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76077266	chr9:1240258-1240259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187545023	chr9:1240259-1240260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544040865	chr9:1240260-1240261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193291553	chr9:1240292-1240293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372804490	chr9:1240313-1240314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184689830	chr9:1240320-1240321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10960582	chr9:1240370-1240371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs560512398	chr9:1240405-1240406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571148670	chr9:1240435-1240436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549656804	chr9:1240468-1240469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139216118	chr9:1240477-1240478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531950106	chr9:1240499-1240500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551713790	chr9:1240520-1240521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189133503	chr9:1240557-1240558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539185528	chr9:1240570-1240571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7848346	chr9:1240579-1240580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192122580	chr9:1240580-1240581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566132986	chr9:1240594-1240595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1415615	chr9:1240607-1240608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1415616	chr9:1240611-1240612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184247270	chr9:1240614-1240615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540300730	chr9:1240620-1240621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367886558	chr9:1240630-1240631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372431702	chr9:1240676-1240677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375423925	chr9:1240679-1240680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542342855	chr9:1240720-1240721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558921890	chr9:1240799-1240800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577902771	chr9:1240811-1240812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112736680	chr9:1240822-1240823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572464533	chr9:1240825-1240826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540777522	chr9:1240852-1240853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560526693	chr9:1240857-1240858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12337569	chr9:1240874-1240875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75250387	chr9:1240926-1240927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376899659	chr9:1240928-1240929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34836480	chr9:1240929-1240930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75066140	chr9:1240930-1240931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397776708	chr9:1240944-1240945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201636350	chr9:1240946-1240947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563220654	chr9:1240955-1240956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531943480	chr9:1241014-1241015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12338550	chr9:1241039-1241040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150470228	chr9:1241044-1241045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138179158	chr9:1241058-1241059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic ductal adenocarcinoma	19077451	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

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1239000-1253400	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:1239200-1243000	Weak transcription	Adipose Nuclei	Adipose
3	chr9:1243000-1243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:1243000-1243600	Enhancers	Adipose Nuclei	Adipose
5	chr9:1248600-1249000	Enhancers	Psoas Muscle	Psoas
6	chr9:1249000-1253200	Weak transcription	Psoas Muscle	Psoas
7	chr9:1252600-1254400	Enhancers	Adipose Nuclei	Adipose
8	chr9:1252800-1253200	Enhancers	Liver	Liver
9	chr9:1252800-1253800	Enhancers	HSMMtube	muscle
10	chr9:1253000-1253200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:1253000-1253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:1253200-1253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:1253200-1253600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:1253200-1253600	Flanking Active TSS	Liver	Liver
15	chr9:1253200-1253800	Enhancers	Psoas Muscle	Psoas
16	chr9:1253200-1254000	Enhancers	Fetal Lung	lung
17	chr9:1253200-1254000	Enhancers	Fetal Stomach	stomach
18	chr9:1253200-1254400	Enhancers	Fetal Kidney	kidney
19	chr9:1253400-1253800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:1253400-1254000	Enhancers	Fetal Muscle Leg	muscle
21	chr9:1253600-1253800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:1253600-1254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:1253600-1254000	Enhancers	HepG2	liver
24	chr9:1253600-1254200	Enhancers	Liver	Liver
25	chr9:1253800-1254800	Enhancers	Fetal Brain Male	brain
26	chr9:1254000-1255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:1254400-1255800	Weak transcription	Adipose Nuclei	Adipose
28	chr9:1255800-1256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:1255800-1256200	Enhancers	Adipose Nuclei	Adipose
30	chr9:1256200-1261200	Weak transcription	Adipose Nuclei	Adipose
31	chr9:1260000-1262600	Enhancers	Colon Smooth Muscle	Colon
32	chr9:1260200-1260400	Enhancers	Pancreas	Pancrea
33	chr9:1260400-1262800	Enhancers	Fetal Muscle Leg	muscle
34	chr9:1260600-1261000	Enhancers	Fetal Intestine Small	intestine
35	chr9:1261000-1261400	Weak transcription	Fetal Intestine Small	intestine
36	chr9:1261200-1261800	Weak transcription	Pancreas	Pancrea
37	chr9:1261200-1262600	Enhancers	Adipose Nuclei	Adipose
38	chr9:1261400-1264000	Enhancers	Fetal Intestine Small	intestine
39	chr9:1261800-1263000	Enhancers	Liver	Liver
40	chr9:1261800-1263400	Enhancers	Fetal Intestine Large	intestine
41	chr9:1262000-1262600	Enhancers	Pancreas	Pancrea
42	chr9:1262200-1263000	Enhancers	HepG2	liver
43	chr9:1262600-1264000	Weak transcription	Adipose Nuclei	Adipose
44	chr9:1262600-1265000	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:1262800-1263200	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:1263200-1263400	Enhancers	Fetal Muscle Leg	muscle
47	chr9:1263400-1273800	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:1264000-1264600	Enhancers	Adipose Nuclei	Adipose
49	chr9:1265000-1265600	Enhancers	Colon Smooth Muscle	Colon
50	chr9:1265600-1267400	Weak transcription	Colon Smooth Muscle	Colon

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