Variant report

Variant	esv17010
Chromosome Location	chr9:96663073-96663603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96662639..96665282-chr9:96667242..96668877,2	K562	blood:
2	chr9:96655426..96659394-chr9:96661426..96665501,6	MCF-7	breast:
3	chr9:96659943..96662280-chr9:96662528..96664579,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57222595	chr9:96663077-96663078	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528133684	chr9:96663087-96663088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143518769	chr9:96663088-96663089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530341132	chr9:96663113-96663114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536170334	chr9:96663128-96663129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557501233	chr9:96663142-96663143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373326910	chr9:96663188-96663189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs376786330	chr9:96663217-96663218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563049812	chr9:96663256-96663257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569352193	chr9:96663267-96663268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539879911	chr9:96663283-96663284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371423605	chr9:96663288-96663289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530345561	chr9:96663298-96663299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558008720	chr9:96663303-96663304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs548439804	chr9:96663412-96663413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6479519	chr9:96663421-96663422	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552836298	chr9:96663427-96663428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7030088	chr9:96663432-96663433	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541782890	chr9:96663441-96663442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7033563	chr9:96663499-96663500	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575360172	chr9:96663531-96663532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545873903	chr9:96663555-96663556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544492155	chr9:96663569-96663570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96662600-96663800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:96663400-96664000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:96663600-96663800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links