Variant report

Variant	nsv892648
Chromosome Location	chr9:16661092-16680901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf92-4	chr9:16665064-16665173	NONHSAT130290

Extended variants
information (count: 1016 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6475067	chr9:16661092-16661093	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543874036	chr9:16661111-16661112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562756288	chr9:16661113-16661114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142404870	chr9:16661123-16661124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552080025	chr9:16661136-16661137	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560613665	chr9:16661156-16661157	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185562358	chr9:16661174-16661175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537350349	chr9:16661194-16661195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138990740	chr9:16661196-16661197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539443015	chr9:16661200-16661201	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7860104	chr9:16661210-16661211	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs550285045	chr9:16661224-16661225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573912578	chr9:16661229-16661230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569102904	chr9:16661272-16661273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368096957	chr9:16661304-16661305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190092194	chr9:16661335-16661336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193076539	chr9:16661402-16661403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573061406	chr9:16661424-16661425	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58369469	chr9:16661441-16661442	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201659636	chr9:16661478-16661479	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34045498	chr9:16661480-16661481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397758292	chr9:16661481-16661482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554962916	chr9:16661490-16661491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184128272	chr9:16661534-16661535	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188533174	chr9:16661563-16661564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562221713	chr9:16661575-16661576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143681515	chr9:16661587-16661588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148057123	chr9:16661636-16661637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78215507	chr9:16661643-16661644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373752671	chr9:16661720-16661721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367596273	chr9:16661726-16661727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78187979	chr9:16661730-16661731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201902368	chr9:16661750-16661751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543310458	chr9:16661774-16661775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565147413	chr9:16661799-16661800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1411428	chr9:16661820-16661821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181038259	chr9:16661931-16661932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2183405	chr9:16661933-16661934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145992331	chr9:16661943-16661944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373644712	chr9:16661955-16661956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532594443	chr9:16661979-16661980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76605207	chr9:16662000-16662001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12002636	chr9:16662016-16662017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533857482	chr9:16662026-16662027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79225943	chr9:16662029-16662030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566950032	chr9:16662080-16662081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537444260	chr9:16662090-16662091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555880974	chr9:16662092-16662093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577668897	chr9:16662122-16662123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553361441	chr9:16662142-16662143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16640000-16670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16654400-16669200	Weak transcription	NHLF	lung
3	chr9:16655000-16666600	Weak transcription	Fetal Stomach	stomach
4	chr9:16655600-16661400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:16656400-16661200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:16656600-16670800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:16657600-16664000	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:16657600-16664000	Weak transcription	Osteobl	bone
9	chr9:16657600-16670800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:16657600-16670800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:16657600-16671000	Weak transcription	NH-A	brain
12	chr9:16657600-16681400	Weak transcription	Psoas Muscle	Psoas
13	chr9:16658800-16664000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:16658800-16664000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:16659000-16664200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:16659400-16664000	Weak transcription	Ovary	ovary
17	chr9:16659800-16670800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:16660800-16661400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:16661000-16661600	Strong transcription	HSMM	muscle
20	chr9:16661200-16661600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:16661400-16666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:16661600-16662000	Weak transcription	HSMM	muscle
23	chr9:16661600-16668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:16662000-16662400	Enhancers	HSMM	muscle
25	chr9:16662400-16671000	Weak transcription	HSMM	muscle
26	chr9:16663400-16671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:16664000-16664400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:16664000-16665000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16664000-16665000	Genic enhancers	Ovary	ovary
30	chr9:16664000-16665000	Enhancers	Osteobl	bone
31	chr9:16664000-16665200	Enhancers	Colon Smooth Muscle	Colon
32	chr9:16664200-16664400	Enhancers	A549	lung
33	chr9:16664200-16664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:16664200-16665000	Enhancers	NHDF-Ad	bronchial
35	chr9:16664400-16668800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:16664400-16671400	Weak transcription	A549	lung
37	chr9:16664800-16665000	Enhancers	Aorta	Aorta
38	chr9:16664800-16667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:16665000-16666400	Weak transcription	Ovary	ovary
40	chr9:16665000-16667800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:16665000-16668400	Weak transcription	Osteobl	bone
42	chr9:16665000-16669000	Weak transcription	NHDF-Ad	bronchial
43	chr9:16665000-16704400	Weak transcription	Aorta	Aorta
44	chr9:16665200-16665600	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:16665600-16665800	Enhancers	Colon Smooth Muscle	Colon
46	chr9:16665800-16666600	Weak transcription	Colon Smooth Muscle	Colon
47	chr9:16666400-16667200	Enhancers	Ovary	ovary
48	chr9:16666600-16666800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:16666600-16667000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:16666600-16667200	Enhancers	Fetal Lung	lung

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