Variant report

Variant	nsv968563
Chromosome Location	chr9:6225006-6233899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 317 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556804845	chr9:6225074-6225075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370584649	chr9:6225075-6225076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185164424	chr9:6225080-6225081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371685924	chr9:6225180-6225181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533716398	chr9:6225204-6225205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79547637	chr9:6225254-6225255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528081849	chr9:6225262-6225263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563696926	chr9:6225297-6225298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530995257	chr9:6225298-6225299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549511057	chr9:6225320-6225321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568210737	chr9:6225445-6225446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530877016	chr9:6225483-6225484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150652056	chr9:6225526-6225527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10435816	chr9:6225535-6225536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188994661	chr9:6225658-6225659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7048482	chr9:6225659-6225660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531272992	chr9:6225681-6225682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557303701	chr9:6225685-6225686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550971570	chr9:6225700-6225701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567873064	chr9:6225753-6225754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569326193	chr9:6225772-6225773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536708722	chr9:6225774-6225775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10815379	chr9:6225825-6225826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139880123	chr9:6225846-6225847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541248288	chr9:6225877-6225878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191507113	chr9:6225904-6225905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578165225	chr9:6225917-6225918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545729836	chr9:6225918-6225919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs36009460	chr9:6225944-6225945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563630087	chr9:6226007-6226008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530934141	chr9:6226015-6226016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149826069	chr9:6226041-6226042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147946023	chr9:6226057-6226058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528622697	chr9:6226063-6226064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530367719	chr9:6226068-6226069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10815380	chr9:6226086-6226087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368698930	chr9:6226128-6226129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183990012	chr9:6226138-6226139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533044523	chr9:6226185-6226186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566923985	chr9:6226188-6226189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551272708	chr9:6226191-6226192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569660965	chr9:6226206-6226207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1418386	chr9:6226207-6226208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188130287	chr9:6226220-6226221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550600326	chr9:6226258-6226259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10815381	chr9:6226289-6226290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1418385	chr9:6226295-6226296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140213790	chr9:6226310-6226311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570431940	chr9:6226357-6226358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545666856	chr9:6226384-6226385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6218200-6226400	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:6218400-6226200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:6218400-6226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:6218400-6226600	Weak transcription	Fetal Lung	lung
5	chr9:6218600-6232600	Weak transcription	Aorta	Aorta
6	chr9:6219600-6225400	Weak transcription	Right Atrium	heart
7	chr9:6220800-6226200	Weak transcription	HUVEC	blood vessel
8	chr9:6222200-6226800	Weak transcription	Hela-S3	cervix
9	chr9:6222600-6226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:6222600-6226800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:6223800-6225200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:6223800-6225600	Enhancers	Fetal Brain Female	brain
13	chr9:6223800-6225800	Enhancers	Fetal Brain Male	brain
14	chr9:6224000-6225400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:6224000-6225600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:6224400-6226200	Weak transcription	Stomach Mucosa	stomach
17	chr9:6224600-6226800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:6224600-6226800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:6224800-6226200	Weak transcription	NHEK	skin
20	chr9:6224800-6226800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:6224800-6232600	Weak transcription	Brain Anterior Caudate	brain
22	chr9:6224800-6242800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:6225000-6226400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:6225000-6229200	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:6225000-6230400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:6225200-6226800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:6225400-6226000	Enhancers	Right Atrium	heart
28	chr9:6225400-6226400	Enhancers	Pancreas	Pancrea
29	chr9:6225400-6229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:6225600-6226200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:6226200-6226400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:6226200-6227400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:6226200-6227400	Enhancers	Stomach Mucosa	stomach
34	chr9:6226200-6227600	Enhancers	HUVEC	blood vessel
35	chr9:6226200-6227600	Enhancers	NHEK	skin
36	chr9:6226200-6227800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:6226400-6226600	Enhancers	Brain Hippocampus Middle	brain
38	chr9:6226400-6227000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:6226400-6227200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:6226400-6227800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:6226400-6227800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:6226400-6227800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:6226400-6228000	Weak transcription	Pancreas	Pancrea
44	chr9:6226400-6229200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:6226600-6227400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:6226600-6227400	Enhancers	Fetal Lung	lung
47	chr9:6226600-6227400	Enhancers	HMEC	breast
48	chr9:6226800-6227000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:6226800-6227000	Enhancers	Fetal Intestine Small	intestine
50	chr9:6226800-6227000	Enhancers	HSMMtube	muscle

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