Variant report

Variant	esv3483093
Chromosome Location	chr9:73500939-73514808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 399 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554143845	chr9:73500952-73500953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572388299	chr9:73500972-73500973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543003874	chr9:73500982-73500983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554930552	chr9:73500993-73500994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576389393	chr9:73501006-73501007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543657873	chr9:73501036-73501037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193199802	chr9:73501110-73501111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565026791	chr9:73501132-73501133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576882423	chr9:73501149-73501150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540810951	chr9:73501168-73501169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559397756	chr9:73501170-73501171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369286622	chr9:73501266-73501267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115151161	chr9:73501333-73501334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12342288	chr9:73501372-73501373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375715797	chr9:73501379-73501380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147567334	chr9:73501410-73501411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140274705	chr9:73501411-73501412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570010585	chr9:73501413-73501414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549962367	chr9:73501426-73501427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201849556	chr9:73501476-73501477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571706703	chr9:73501504-73501505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545506236	chr9:73501528-73501529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368458493	chr9:73501561-73501562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144552172	chr9:73501574-73501575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560003768	chr9:73501588-73501589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371197177	chr9:73501610-73501611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547620745	chr9:73501611-73501612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184552912	chr9:73501621-73501622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113089911	chr9:73501644-73501645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554967637	chr9:73501659-73501660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140355806	chr9:73501737-73501738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11788489	chr9:73501744-73501745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537302936	chr9:73501770-73501771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558883525	chr9:73501800-73501801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577012073	chr9:73501811-73501812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541200862	chr9:73501829-73501830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559219847	chr9:73501840-73501841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574442231	chr9:73501870-73501871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77327485	chr9:73501877-73501878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562894583	chr9:73501900-73501901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188521356	chr9:73501904-73501905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531890484	chr9:73501934-73501935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150352727	chr9:73501975-73501976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565567632	chr9:73501986-73501987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548540690	chr9:73501990-73501991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191837337	chr9:73502020-73502021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547955171	chr9:73502154-73502155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73459229	chr9:73502176-73502177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144983111	chr9:73502207-73502208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548611617	chr9:73502229-73502230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73498400-73503600	Weak transcription	HUVEC	blood vessel
2	chr9:73499600-73501200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:73500600-73501000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:73500600-73501800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:73500600-73501800	Weak transcription	NHDF-Ad	bronchial
6	chr9:73501200-73501400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:73501800-73503000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:73502000-73502200	Enhancers	NHDF-Ad	bronchial
9	chr9:73502600-73503200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:73503600-73503800	Enhancers	HUVEC	blood vessel
11	chr9:73506800-73508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:73508400-73508600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:73508600-73519800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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