Variant report

Variant	nsv515739
Chromosome Location	chr9:18082704-18089614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 315 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1329923	chr9:18082704-18082705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185363536	chr9:18082724-18082725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77177344	chr9:18082775-18082776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76106575	chr9:18082816-18082817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542957158	chr9:18082846-18082847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1329922	chr9:18082861-18082862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149644495	chr9:18082877-18082878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78978393	chr9:18082889-18082890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564618854	chr9:18082899-18082900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532092459	chr9:18082938-18082939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147295261	chr9:18082945-18082946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115412655	chr9:18082956-18082957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34908863	chr9:18082961-18082962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77793158	chr9:18082990-18082991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548178993	chr9:18083023-18083024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558526903	chr9:18083033-18083034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577065565	chr9:18083041-18083042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113990719	chr9:18083045-18083046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537221802	chr9:18083058-18083059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190072927	chr9:18083066-18083067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578121369	chr9:18083083-18083084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182682626	chr9:18083085-18083086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554090596	chr9:18083093-18083094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572360471	chr9:18083098-18083099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559416499	chr9:18083150-18083151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10756929	chr9:18083153-18083154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554819524	chr9:18083195-18083196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186076158	chr9:18083205-18083206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543573129	chr9:18083240-18083241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565158634	chr9:18083241-18083242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532185618	chr9:18083342-18083343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62548510	chr9:18083355-18083356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559438653	chr9:18083398-18083399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529654704	chr9:18083455-18083456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191745548	chr9:18083466-18083467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377540464	chr9:18083468-18083469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183988927	chr9:18083470-18083471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76602810	chr9:18083489-18083490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188885758	chr9:18083520-18083521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117031782	chr9:18083526-18083527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370872615	chr9:18083600-18083601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553968198	chr9:18083642-18083643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575014093	chr9:18083645-18083646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76323799	chr9:18083653-18083654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7030336	chr9:18083668-18083669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554556121	chr9:18083703-18083704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576298439	chr9:18083716-18083717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193275034	chr9:18083725-18083726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528577538	chr9:18083731-18083732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577356633	chr9:18083737-18083738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18075000-18085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:18078000-18084400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:18079000-18114800	Weak transcription	Aorta	Aorta
4	chr9:18085000-18085200	ZNF genes & repeats	Gastric	stomach
5	chr9:18085000-18085400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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