Variant report

Variant	nsv972628
Chromosome Location	chr9:105123928-105124669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529550747	chr9:105123932-105123933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28496316	chr9:105123937-105123938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141963213	chr9:105123955-105123956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185018376	chr9:105123977-105123978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79621107	chr9:105124039-105124040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73661248	chr9:105124059-105124060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376863300	chr9:105124094-105124095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533779648	chr9:105124116-105124117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553813575	chr9:105124125-105124126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78389870	chr9:105124146-105124147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536572113	chr9:105124199-105124200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150670534	chr9:105124215-105124216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576291037	chr9:105124233-105124234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372397746	chr9:105124238-105124239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28591431	chr9:105124251-105124252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578068364	chr9:105124259-105124260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540578185	chr9:105124270-105124271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560115356	chr9:105124296-105124297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370568693	chr9:105124302-105124303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531881070	chr9:105124321-105124322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529513449	chr9:105124335-105124336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111874126	chr9:105124370-105124371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112481755	chr9:105124377-105124378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146170721	chr9:105124446-105124447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189821485	chr9:105124477-105124478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531912482	chr9:105124486-105124487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551732489	chr9:105124492-105124493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183847433	chr9:105124501-105124502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368003529	chr9:105124509-105124510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57654228	chr9:105124518-105124519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547390207	chr9:105124535-105124536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10820152	chr9:105124536-105124537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536288645	chr9:105124550-105124551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189214281	chr9:105124586-105124587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569900227	chr9:105124587-105124588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139134842	chr9:105124591-105124592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536045131	chr9:105124595-105124596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1364816	chr9:105124612-105124613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558479631	chr9:105124637-105124638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105122800-105124000	Enhancers	Liver	Liver
2	chr9:105124000-105124800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links