Variant report

Variant	esv2761479
Chromosome Location	chr9:2310765-2327914
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	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:

Extended variants
information (count: 770 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150290594	chr9:2311611-2311612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs11506461	chr9:2311635-2311636	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564355779	chr9:2311679-2311680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11536717	chr9:2311711-2311712	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs137955147	chr9:2311724-2311725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560356004	chr9:2311753-2311754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375635093	chr9:2311775-2311776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528989387	chr9:2311782-2311783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376639993	chr9:2311787-2311788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568806419	chr9:2311856-2311857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34251653	chr9:2311872-2311873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533054383	chr9:2311935-2311936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551685550	chr9:2311940-2311941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571628530	chr9:2311952-2311953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568398018	chr9:2311999-2312000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534187033	chr9:2312029-2312030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553953449	chr9:2312071-2312072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201200885	chr9:2312077-2312078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13301730	chr9:2312091-2312092	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373601428	chr9:2312092-2312093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554012168	chr9:2312124-2312125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs13301871	chr9:2312156-2312157	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10965569	chr9:2312205-2312206	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193269011	chr9:2312237-2312238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545965820	chr9:2312240-2312241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540493060	chr9:2312269-2312270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560392806	chr9:2312272-2312273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529082719	chr9:2312326-2312327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542392581	chr9:2312344-2312345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562582085	chr9:2312357-2312358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184139644	chr9:2312384-2312385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs558265036	chr9:2312395-2312396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531278503	chr9:2312422-2312423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10217585	chr9:2312433-2312434	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10217246	chr9:2312455-2312456	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527979204	chr9:2312474-2312475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28768147	chr9:2312504-2312505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547678954	chr9:2312540-2312541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189466117	chr9:2312544-2312545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377214423	chr9:2312546-2312547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544241100	chr9:2312574-2312575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560723775	chr9:2312585-2312586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374086421	chr9:2312589-2312590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181259681	chr9:2312603-2312604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570156359	chr9:2312631-2312632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116925858	chr9:2312663-2312664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370412159	chr9:2312688-2312689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574333186	chr9:2312799-2312800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs186721240	chr9:2312812-2312813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189002920	chr9:2312824-2312825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2311600-2314000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr9:2313200-2317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:2313600-2314200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:2313600-2314600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr9:2313600-2314600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:2313600-2314800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:2313800-2314000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:2313800-2314400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:2314000-2314400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
10	chr9:2314400-2314600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:2314400-2316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:2314600-2316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:2314800-2332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:2316600-2317000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:2316600-2317800	Enhancers	Placenta	Placenta
16	chr9:2316800-2317200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:2316800-2318600	Enhancers	HMEC	breast
18	chr9:2317000-2318000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:2317000-2318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:2317200-2317800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:2317200-2318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:2317200-2318400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:2318200-2319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:2318600-2319000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:2318600-2319800	Weak transcription	HMEC	breast
26	chr9:2319000-2320000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:2319200-2319400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:2319800-2320000	Enhancers	HMEC	breast
29	chr9:2321200-2322000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:2321200-2322200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr9:2321400-2322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr9:2321600-2322400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links