Variant report

Variant	nsv972296
Chromosome Location	chr9:14978869-14982045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FREM1-1	chr9:14979298-14979338	l_3739_chr9:14977433-14983179_testes
2	lnc-FREM1-1	chr9:14980226-14980343	l_3739_chr9:14977433-14983179_testes

Extended variants
information (count: 178 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73642482	chr9:14978871-14978872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531023462	chr9:14978888-14978889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56103651	chr9:14978943-14978944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571001353	chr9:14978944-14978945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59977698	chr9:14978975-14978976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547240509	chr9:14978977-14978978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568726124	chr9:14979003-14979004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536168077	chr9:14979059-14979060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530332477	chr9:14979078-14979079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35674762	chr9:14979079-14979080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138437475	chr9:14979102-14979103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552525764	chr9:14979137-14979138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181560634	chr9:14979156-14979157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543176752	chr9:14979185-14979186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558403968	chr9:14979186-14979187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371704665	chr9:14979220-14979221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553305459	chr9:14979224-14979225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576545065	chr9:14979235-14979236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202114372	chr9:14979251-14979252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186048430	chr9:14979271-14979272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573332596	chr9:14979294-14979295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191800118	chr9:14979368-14979369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111388172	chr9:14979389-14979390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62534842	chr9:14979395-14979396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541797358	chr9:14979400-14979401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563695703	chr9:14979421-14979422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10810307	chr9:14979425-14979426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs200763163	chr9:14979444-14979445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113184729	chr9:14979445-14979446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564547447	chr9:14979450-14979451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528602800	chr9:14979454-14979455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547177226	chr9:14979481-14979482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201425209	chr9:14979494-14979495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199596736	chr9:14979497-14979498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568712039	chr9:14979527-14979528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529610258	chr9:14979535-14979536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551020310	chr9:14979538-14979539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569618741	chr9:14979539-14979540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149325152	chr9:14979606-14979607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12345000	chr9:14979622-14979623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565272928	chr9:14979664-14979665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181417205	chr9:14979683-14979684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200727337	chr9:14979697-14979698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118015904	chr9:14979702-14979703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186427332	chr9:14979713-14979714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113607619	chr9:14979715-14979716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552738470	chr9:14979741-14979742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574336519	chr9:14979772-14979773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542084346	chr9:14979773-14979774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190871011	chr9:14979800-14979801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	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
Pancreatic cancer	21811587	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14957600-14982400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:14973800-14991400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:14978600-14979200	Enhancers	Duodenum Mucosa	Duodenum
4	chr9:14978600-14980600	Weak transcription	Fetal Stomach	stomach
5	chr9:14978800-14979000	Weak transcription	Fetal Intestine Large	intestine
6	chr9:14979000-14979200	Enhancers	Fetal Intestine Large	intestine
7	chr9:14980400-14980600	Bivalent Enhancer	HepG2	liver
8	chr9:14980600-14981000	Enhancers	Fetal Stomach	stomach
9	chr9:14981000-14981600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:14981000-14982200	Weak transcription	Fetal Stomach	stomach
11	chr9:14981000-14992400	Weak transcription	Fetal Heart	heart
12	chr9:14981400-14982200	Enhancers	Fetal Lung	lung
13	chr9:14981600-14982000	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:14982000-14982600	Enhancers	Fetal Muscle Leg	muscle

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