Variant report

Variant	nsv524001
Chromosome Location	chr9:98556894-98558844
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	chr9:98557263..98558873-chr9:98672395..98674331,2	K562	blood:
2	chr9:98555048..98557462-chr9:98559025..98561990,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1369156	chr9:98556894-98556895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115409174	chr9:98556920-98556921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35618164	chr9:98556925-98556926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370174210	chr9:98556946-98556947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566715771	chr9:98556954-98556955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73656540	chr9:98556958-98556959	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73530711	chr9:98556999-98557000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568436807	chr9:98557014-98557015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11788701	chr9:98557079-98557080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535858581	chr9:98557100-98557101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35808729	chr9:98557103-98557104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557033343	chr9:98557114-98557115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375050765	chr9:98557120-98557121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546135949	chr9:98557168-98557169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149527041	chr9:98557202-98557203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs558013330	chr9:98557243-98557244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573127464	chr9:98557246-98557247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146031803	chr9:98557330-98557331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114024689	chr9:98557336-98557337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375442785	chr9:98557342-98557343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181085878	chr9:98557377-98557378	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544195530	chr9:98557457-98557458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386736500	chr9:98557460-98557461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2405134	chr9:98557461-98557462	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs551736726	chr9:98557497-98557498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566752657	chr9:98557530-98557531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139898490	chr9:98557574-98557575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376510164	chr9:98557613-98557614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559747871	chr9:98557636-98557637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568550003	chr9:98557637-98557638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535532971	chr9:98557662-98557663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12551880	chr9:98557667-98557668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146257588	chr9:98557716-98557717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552098120	chr9:98557736-98557737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539425666	chr9:98557741-98557742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs118136789	chr9:98557767-98557768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs79385028	chr9:98557780-98557781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60567344	chr9:98557800-98557801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139359890	chr9:98557802-98557803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34745335	chr9:98557803-98557804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148423562	chr9:98557852-98557853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540828903	chr9:98557853-98557854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7859542	chr9:98557868-98557869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200225128	chr9:98557893-98557894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574172010	chr9:98557925-98557926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544015003	chr9:98557957-98557958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562590569	chr9:98557985-98557986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577743724	chr9:98558048-98558049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544994992	chr9:98558049-98558050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10983692	chr9:98558050-98558051	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98548200-98558400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:98548400-98578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:98555400-98557600	Enhancers	HUVEC	blood vessel
4	chr9:98555400-98557600	Enhancers	NHDF-Ad	bronchial
5	chr9:98555800-98557600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:98555800-98557600	Enhancers	HSMMtube	muscle
7	chr9:98555800-98557600	Enhancers	NHLF	lung
8	chr9:98556000-98557400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:98556000-98557400	Enhancers	Hela-S3	cervix
10	chr9:98556000-98557400	Enhancers	HSMM	muscle
11	chr9:98556000-98557600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:98556000-98557600	Enhancers	Osteobl	bone
13	chr9:98556200-98557000	Enhancers	A549	lung
14	chr9:98556200-98557600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:98556200-98557600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:98556400-98557000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:98556400-98557600	Enhancers	NH-A	brain
18	chr9:98556600-98557400	Enhancers	Fetal Kidney	kidney
19	chr9:98556800-98557400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:98556800-98557600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:98557000-98557400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:98557000-98557800	Enhancers	Fetal Muscle Leg	muscle
23	chr9:98557200-98557400	Enhancers	Pancreas	Pancrea
24	chr9:98557200-98557400	Enhancers	Right Atrium	heart
25	chr9:98557200-98557600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:98557200-98557600	Enhancers	Ovary	ovary
27	chr9:98557400-98563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:98557400-98577200	Weak transcription	Pancreas	Pancrea
29	chr9:98557600-98562600	Weak transcription	HUVEC	blood vessel
30	chr9:98557800-98558400	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:98558000-98558400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:98558200-98558600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:98558400-98558600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:98558400-98558600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:98558400-98558600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:98558400-98558600	Enhancers	Fetal Muscle Leg	muscle
37	chr9:98558600-98558800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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