Variant report

Variant	esv3422828
Chromosome Location	chr9:96807631-96812729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57992049	chr9:96807636-96807637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186888718	chr9:96807646-96807647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368113636	chr9:96807695-96807696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535597349	chr9:96807761-96807762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550648918	chr9:96807764-96807765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371567608	chr9:96807811-96807812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376646409	chr9:96807855-96807856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539799717	chr9:96807867-96807868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368460445	chr9:96807880-96807881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558599039	chr9:96807946-96807947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570690068	chr9:96807953-96807954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192754978	chr9:96807956-96807957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184452944	chr9:96807969-96807970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574675268	chr9:96807971-96807972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541980900	chr9:96807973-96807974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556999927	chr9:96807988-96807989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189381341	chr9:96807991-96807992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11515595	chr9:96808019-96808020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12353106	chr9:96808022-96808023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375441198	chr9:96808023-96808024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369792240	chr9:96808121-96808122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373279007	chr9:96808142-96808143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376099387	chr9:96808144-96808145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140894133	chr9:96808151-96808152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575633616	chr9:96808154-96808155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138241025	chr9:96808174-96808175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375729530	chr9:96808179-96808180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528711277	chr9:96808195-96808196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540520020	chr9:96808197-96808198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561982085	chr9:96808198-96808199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79635425	chr9:96808210-96808211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529429164	chr9:96808220-96808221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550824037	chr9:96808237-96808238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569306545	chr9:96808244-96808245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199693052	chr9:96808245-96808246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533186566	chr9:96808279-96808280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551711129	chr9:96808288-96808289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566750934	chr9:96808360-96808361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534958710	chr9:96808398-96808399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373917965	chr9:96808408-96808409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377064556	chr9:96808441-96808442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553289577	chr9:96808467-96808468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371135500	chr9:96808469-96808470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535619057	chr9:96808529-96808530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556798369	chr9:96808610-96808611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575260619	chr9:96808619-96808620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545487674	chr9:96808673-96808674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185671503	chr9:96808690-96808691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572492711	chr9:96808694-96808695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540556652	chr9:96808753-96808754	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96794200-96828000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:96795400-96823800	Weak transcription	Left Ventricle	heart
3	chr9:96798200-96822400	Weak transcription	Fetal Lung	lung
4	chr9:96800000-96818600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:96805600-96812800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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