Variant report

Variant	esv3493692
Chromosome Location	chr9:110326250-110327355
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	chr9:110249985..110251793-chr9:110325648..110328170,2	MCF-7	breast:
2	chr9:110327119..110329537-chr9:110335224..110338089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115197941	chr9:110326279-110326280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530444865	chr9:110326356-110326357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74805202	chr9:110326363-110326364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114669200	chr9:110326364-110326365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147585971	chr9:110326383-110326384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142112780	chr9:110326395-110326396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570967363	chr9:110326421-110326422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75583985	chr9:110326436-110326437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2258651	chr9:110326443-110326444	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574771072	chr9:110326479-110326480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200250960	chr9:110326493-110326494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554610835	chr9:110326514-110326515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572799996	chr9:110326520-110326521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540038973	chr9:110326555-110326556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567690997	chr9:110326558-110326559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370102604	chr9:110326620-110326621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375186519	chr9:110326674-110326675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543941657	chr9:110326721-110326722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562580439	chr9:110326724-110326725	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191282466	chr9:110326728-110326729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563299016	chr9:110326823-110326824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs75765794	chr9:110326829-110326830	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530796151	chr9:110326869-110326870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2258660	chr9:110326874-110326875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552821617	chr9:110326875-110326876	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571030635	chr9:110326882-110326883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76734887	chr9:110326897-110326898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556417867	chr9:110326910-110326911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573597477	chr9:110326916-110326917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1005946	chr9:110326917-110326918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1977862	chr9:110326929-110326930	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181644576	chr9:110326941-110326942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186023263	chr9:110326968-110326969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572807935	chr9:110327013-110327014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540101274	chr9:110327072-110327073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7038294	chr9:110327073-110327074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190737256	chr9:110327077-110327078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559577841	chr9:110327094-110327095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76555507	chr9:110327125-110327126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544378515	chr9:110327194-110327195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79525450	chr9:110327230-110327231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529792583	chr9:110327243-110327244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541470880	chr9:110327257-110327258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76961069	chr9:110327270-110327271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138985362	chr9:110327288-110327289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74876029	chr9:110327302-110327303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75606199	chr9:110327303-110327304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7865592	chr9:110327320-110327321	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150370541	chr9:110327323-110327324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110310600-110327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110320400-110331800	Weak transcription	Gastric	stomach
3	chr9:110325400-110328600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:110325600-110326600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:110326600-110327000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:110326800-110327000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:110327000-110327200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:110327000-110328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:110327200-110327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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