Variant report

Variant	nsv973429
Chromosome Location	chr9:27229898-27246226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf11-1	chr9:27237388-27237508	NONHSAT130610
2	lnc-TEK-2	chr9:27245986-27246282	XLOC_007307
3	lnc-C9orf11-1	chr9:27235682-27235760	NONHSAT130610
4	lnc-TEK-2	chr9:27245472-27245673	XLOC_007307
5	lnc-C9orf11-1	chr9:27235684-27235760	l_3745_NR_026687
6	lnc-C9orf11-1	chr9:27237388-27237508	l_3745_NR_026687

Variant related genes	Relation type
ATP6V1B2	miRNA target sites

Extended variants
information (count: 275 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562113265	chr9:27229946-27229947	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs41272851	chr9:27229947-27229948	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547853960	chr9:27229956-27229957	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs140755654	chr9:27230018-27230019	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141265339	chr9:27230048-27230049	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150338418	chr9:27230118-27230119	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552070074	chr9:27230140-27230141	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9987817	chr9:27230152-27230153	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538138674	chr9:27230166-27230167	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs45453595	chr9:27230178-27230179	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138232279	chr9:27230186-27230187	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1407300	chr9:27230196-27230197	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1407299	chr9:27230287-27230288	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149580156	chr9:27230288-27230289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574493761	chr9:27230321-27230322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115287323	chr9:27230358-27230359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539999947	chr9:27230360-27230361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558493964	chr9:27230374-27230375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9886857	chr9:27230388-27230389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187696032	chr9:27230450-27230451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561974848	chr9:27230457-27230458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573955906	chr9:27230501-27230502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9886732	chr9:27230509-27230510	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559388528	chr9:27230532-27230533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs527486211	chr9:27230557-27230558	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545639411	chr9:27230565-27230566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564297561	chr9:27230575-27230576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs531542036	chr9:27230583-27230584	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371558895	chr9:27230602-27230603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191324544	chr9:27230613-27230614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140039225	chr9:27230614-27230615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567982271	chr9:27230629-27230630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141954138	chr9:27230639-27230640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547522136	chr9:27230660-27230661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531906220	chr9:27230733-27230734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565735251	chr9:27230765-27230766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539538238	chr9:27230808-27230809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558433137	chr9:27230816-27230817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183866100	chr9:27230859-27230860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13300536	chr9:27230888-27230889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555997338	chr9:27230909-27230910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573968397	chr9:27230925-27230926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148573663	chr9:27230944-27230945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142934857	chr9:27230952-27230953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12348510	chr9:27230953-27230954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528765524	chr9:27230975-27230976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545082779	chr9:27230979-27230980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564151248	chr9:27231070-27231071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555545733	chr9:27231071-27231072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74971355	chr9:27231094-27231095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Cancer	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:27211800-27231600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:27213000-27232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:27219000-27231600	Weak transcription	Fetal Lung	lung
5	chr9:27219400-27230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:27220800-27230000	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:27221400-27230200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:27222000-27230800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:27223000-27230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:27226000-27231200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:27226200-27230600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:27227200-27230000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr9:27227200-27230000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:27227200-27230600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:27227600-27230400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:27229400-27230600	Weak transcription	Ovary	ovary
17	chr9:27229400-27231600	Weak transcription	Lung	lung
18	chr9:27229400-27231800	Weak transcription	HUVEC	blood vessel
19	chr9:27229400-27232600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:27229400-27232800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:27229600-27230000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:27229600-27230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:27229800-27230200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:27230000-27230200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr9:27230000-27230400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:27230200-27230400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:27230200-27230400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr9:27230400-27231000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:27230400-27231200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:27230400-27231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:27230600-27231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:27230600-27232600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:27231200-27231600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:27231600-27233200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:27231800-27233600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:27232600-27233600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:27232800-27233400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:27232800-27233600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:27233400-27234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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