Variant report

Variant	esv3345208
Chromosome Location	chr9:18286652-18288800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL1-1	chr9:18288533-18288954	NONHSAT130306

Extended variants
information (count: 44 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144199906	chr9:18288007-18288008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561894720	chr9:18288026-18288027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532369063	chr9:18288033-18288034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544475699	chr9:18288041-18288042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575542062	chr9:18288044-18288045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143437470	chr9:18288057-18288058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138114974	chr9:18288059-18288060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78038649	chr9:18288064-18288065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183837147	chr9:18288077-18288078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528012932	chr9:18288079-18288080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368231367	chr9:18288081-18288082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533333458	chr9:18288152-18288153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73643219	chr9:18288168-18288169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566558479	chr9:18288171-18288172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148719742	chr9:18288206-18288207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10810945	chr9:18288212-18288213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs16936515	chr9:18288215-18288216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142202483	chr9:18288216-18288217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190010555	chr9:18288256-18288257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181714578	chr9:18288268-18288269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147856729	chr9:18288287-18288288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532215684	chr9:18288289-18288290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572217151	chr9:18288297-18288298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540335471	chr9:18288306-18288307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139643748	chr9:18288311-18288312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201559281	chr9:18288388-18288389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573677496	chr9:18288411-18288412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544233471	chr9:18288417-18288418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187088449	chr9:18288487-18288488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191921150	chr9:18288504-18288505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545685702	chr9:18288529-18288530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560438415	chr9:18288548-18288549	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs527899822	chr9:18288558-18288559	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs548773549	chr9:18288577-18288578	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs567394096	chr9:18288599-18288600	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531314653	chr9:18288603-18288604	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs549851448	chr9:18288665-18288666	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs571268403	chr9:18288679-18288680	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs535062749	chr9:18288711-18288712	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368895503	chr9:18288742-18288743	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs147585821	chr9:18288749-18288750	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs140800834	chr9:18288751-18288752	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs150114301	chr9:18288757-18288758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs550272459	chr9:18288793-18288794	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18288000-18288200	Enhancers	Aorta	Aorta
2	chr9:18288000-18289000	Enhancers	Colon Smooth Muscle	Colon
3	chr9:18288600-18290400	Weak transcription	Aorta	Aorta

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