Variant report

Variant	nsv1032967
Chromosome Location	chr9:7985651-8088281
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	chr11:107728772..107729298-chr9:8021237..8021737,2	HCT-116	colon:
2	chr11:107727967..107730044-chr9:8019737..8022718,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-16	chr9:8085728-8085987	uc_249_+
2	lnc-C9orf123-8	chr9:8085728-8085987	uc_249_-

Variant related genes	Relation type
ENSG00000110660	chromatin interactions

Extended variants
information (count: 1967 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1967 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1407469	chr9:7985651-7985652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190145686	chr9:7985661-7985662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565613865	chr9:7985686-7985687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73640572	chr9:7985708-7985709	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544531451	chr9:7985734-7985735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559282994	chr9:7985736-7985737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192769664	chr9:7985750-7985751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529622052	chr9:7985764-7985765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547901850	chr9:7985827-7985828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566206452	chr9:7985834-7985835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376380671	chr9:7985868-7985869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527515147	chr9:7985871-7985872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12338874	chr9:7985881-7985882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184838233	chr9:7985907-7985908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58699014	chr9:7985926-7985927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149179935	chr9:7985929-7985930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189349844	chr9:7985933-7985934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569251495	chr9:7985970-7985971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545006203	chr9:7986013-7986014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570235179	chr9:7986030-7986031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143400228	chr9:7986055-7986056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555130374	chr9:7986064-7986065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148370095	chr9:7986068-7986069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564599758	chr9:7986133-7986134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76572413	chr9:7986164-7986165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374010339	chr9:7986170-7986171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377650199	chr9:7986200-7986201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574382271	chr9:7986212-7986213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559104391	chr9:7986258-7986259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202163236	chr9:7986288-7986289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35807693	chr9:7986289-7986290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57011783	chr9:7986290-7986291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200089519	chr9:7986291-7986292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577325401	chr9:7986295-7986296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544904003	chr9:7986321-7986322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563011947	chr9:7986339-7986340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529667449	chr9:7986374-7986375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79115954	chr9:7986398-7986399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74747375	chr9:7986478-7986479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199880669	chr9:7986481-7986482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375673156	chr9:7986492-7986493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527379609	chr9:7986534-7986535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1407470	chr9:7986602-7986603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570638689	chr9:7986615-7986616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370505748	chr9:7986631-7986632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143296421	chr9:7986634-7986635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550072757	chr9:7986639-7986640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550358237	chr9:7986640-7986641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527303524	chr9:7986689-7986690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2208743	chr9:7986693-7986694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7979600-7985800	Enhancers	Fetal Brain Male	brain
2	chr9:7980400-7987600	Weak transcription	Fetal Lung	lung
3	chr9:7982800-7986800	Enhancers	Brain Angular Gyrus	brain
4	chr9:7984400-7987000	Weak transcription	Brain Germinal Matrix	brain
5	chr9:7985000-7986000	Weak transcription	Fetal Heart	heart
6	chr9:7985200-7987600	Weak transcription	Brain Anterior Caudate	brain
7	chr9:7985600-7986800	Weak transcription	Brain Substantia Nigra	brain
8	chr9:7985600-7987600	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:7985800-7986600	Weak transcription	Fetal Brain Male	brain
10	chr9:7986000-7987400	Enhancers	Fetal Heart	heart
11	chr9:7986600-7986800	Enhancers	Fetal Brain Male	brain
12	chr9:7986800-7987000	Enhancers	Brain Substantia Nigra	brain
13	chr9:7987000-7987200	Enhancers	Brain Germinal Matrix	brain
14	chr9:7987200-7987600	Weak transcription	Brain Germinal Matrix	brain
15	chr9:7987400-7988600	Weak transcription	Fetal Heart	heart
16	chr9:7987600-7988000	Enhancers	Brain Anterior Caudate	brain
17	chr9:7987600-7988200	Enhancers	Brain Hippocampus Middle	brain
18	chr9:7987600-7988400	Enhancers	Fetal Lung	lung
19	chr9:7987600-7988600	Enhancers	Brain Germinal Matrix	brain
20	chr9:7988400-7989600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr9:7988600-7988800	Enhancers	Fetal Heart	heart
22	chr9:7988800-7992000	Weak transcription	Fetal Heart	heart
23	chr9:7989600-7993200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:7992000-7992400	Enhancers	Fetal Heart	heart
25	chr9:7992400-7994400	Weak transcription	Fetal Heart	heart
26	chr9:7993000-7993800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:7993200-7994400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:7994400-7994800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:7994400-7995000	Enhancers	Fetal Heart	heart
30	chr9:7994800-7995600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr9:7994800-7996000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr9:7996600-7997000	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:8011400-8012400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:8011800-8012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:8011800-8012400	Enhancers	Brain Substantia Nigra	brain
36	chr9:8012000-8012400	Enhancers	Brain Hippocampus Middle	brain
37	chr9:8012000-8012600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:8012400-8012600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr9:8012400-8021400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:8012600-8013200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:8013200-8014400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr9:8014400-8015400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr9:8015400-8015800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr9:8015400-8016000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:8015600-8016000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:8020000-8020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:8020200-8020600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:8022800-8027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr9:8025000-8025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:8025200-8032600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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