Variant report

Variant	esv2762781
Chromosome Location	chr9:1243452-1283014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1552 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1337623	chr9:1243452-1243453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563546853	chr9:1243487-1243488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532128005	chr9:1243488-1243489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552263816	chr9:1243501-1243502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192326756	chr9:1243538-1243539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552273375	chr9:1243545-1243546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145814854	chr9:1243551-1243552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548594489	chr9:1243561-1243562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111508425	chr9:1243573-1243574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7875865	chr9:1243584-1243585	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2375258	chr9:1243588-1243589	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375691801	chr9:1243597-1243598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571062991	chr9:1243639-1243640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540003594	chr9:1243680-1243681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568415980	chr9:1243690-1243691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534097308	chr9:1243724-1243725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148980168	chr9:1243730-1243731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377354555	chr9:1243739-1243740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566429487	chr9:1243753-1243754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545850828	chr9:1243787-1243788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182066642	chr9:1243815-1243816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543145224	chr9:1243817-1243818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572198379	chr9:1243823-1243824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540752103	chr9:1243827-1243828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4741218	chr9:1243842-1243843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187850946	chr9:1243845-1243846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558263126	chr9:1243854-1243855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143839863	chr9:1243857-1243858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148162495	chr9:1243867-1243868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10960612	chr9:1243897-1243898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544234316	chr9:1243922-1243923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554859895	chr9:1243923-1243924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528600336	chr9:1243924-1243925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556001908	chr9:1243928-1243929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574809958	chr9:1243931-1243932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112278799	chr9:1243967-1243968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145008310	chr9:1244018-1244019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530768159	chr9:1244035-1244036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551270340	chr9:1244088-1244089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540397608	chr9:1244102-1244103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138792873	chr9:1244109-1244110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540114347	chr9:1244113-1244114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560330741	chr9:1244134-1244135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56203300	chr9:1244144-1244145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12345687	chr9:1244181-1244182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs115723866	chr9:1244189-1244190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74451405	chr9:1244206-1244207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561824900	chr9:1244208-1244209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554322346	chr9:1244233-1244234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562732027	chr9:1244283-1244284	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:61 , 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	chr9:1243000-1243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1243000-1243600	Enhancers	Adipose Nuclei	Adipose
4	chr9:1248600-1249000	Enhancers	Psoas Muscle	Psoas
5	chr9:1249000-1253200	Weak transcription	Psoas Muscle	Psoas
6	chr9:1252600-1254400	Enhancers	Adipose Nuclei	Adipose
7	chr9:1252800-1253200	Enhancers	Liver	Liver
8	chr9:1252800-1253800	Enhancers	HSMMtube	muscle
9	chr9:1253000-1253200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:1253000-1253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:1253200-1253600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:1253200-1253600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:1253200-1253600	Flanking Active TSS	Liver	Liver
14	chr9:1253200-1253800	Enhancers	Psoas Muscle	Psoas
15	chr9:1253200-1254000	Enhancers	Fetal Lung	lung
16	chr9:1253200-1254000	Enhancers	Fetal Stomach	stomach
17	chr9:1253200-1254400	Enhancers	Fetal Kidney	kidney
18	chr9:1253400-1253800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:1253400-1254000	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1253600-1253800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:1253600-1254000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:1253600-1254000	Enhancers	HepG2	liver
23	chr9:1253600-1254200	Enhancers	Liver	Liver
24	chr9:1253800-1254800	Enhancers	Fetal Brain Male	brain
25	chr9:1254000-1255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:1254400-1255800	Weak transcription	Adipose Nuclei	Adipose
27	chr9:1255800-1256200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:1255800-1256200	Enhancers	Adipose Nuclei	Adipose
29	chr9:1256200-1261200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:1260000-1262600	Enhancers	Colon Smooth Muscle	Colon
31	chr9:1260200-1260400	Enhancers	Pancreas	Pancrea
32	chr9:1260400-1262800	Enhancers	Fetal Muscle Leg	muscle
33	chr9:1260600-1261000	Enhancers	Fetal Intestine Small	intestine
34	chr9:1261000-1261400	Weak transcription	Fetal Intestine Small	intestine
35	chr9:1261200-1261800	Weak transcription	Pancreas	Pancrea
36	chr9:1261200-1262600	Enhancers	Adipose Nuclei	Adipose
37	chr9:1261400-1264000	Enhancers	Fetal Intestine Small	intestine
38	chr9:1261800-1263000	Enhancers	Liver	Liver
39	chr9:1261800-1263400	Enhancers	Fetal Intestine Large	intestine
40	chr9:1262000-1262600	Enhancers	Pancreas	Pancrea
41	chr9:1262200-1263000	Enhancers	HepG2	liver
42	chr9:1262600-1264000	Weak transcription	Adipose Nuclei	Adipose
43	chr9:1262600-1265000	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:1262800-1263200	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:1263200-1263400	Enhancers	Fetal Muscle Leg	muscle
46	chr9:1263400-1273800	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:1264000-1264600	Enhancers	Adipose Nuclei	Adipose
48	chr9:1265000-1265600	Enhancers	Colon Smooth Muscle	Colon
49	chr9:1265600-1267400	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:1266400-1267600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links