Variant report

Variant	nsv892647
Chromosome Location	chr9:16476144-16521534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:16518671..16520605-chr9:16526925..16528585,2	MCF-7	breast:
2	chr9:16520489..16522214-chr9:16551948..16553682,2	MCF-7	breast:
3	chr9:16519927..16521803-chr9:16525394..16528325,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf93-2	chr9:16475991-16476235	ENSG00000231756.1

Extended variants
information (count: 2159 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2159 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7046884	chr9:16476144-16476145	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377327437	chr9:16476146-16476147	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573300501	chr9:16476245-16476246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534259023	chr9:16476256-16476257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552895016	chr9:16476301-16476302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574658666	chr9:16476310-16476311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375846744	chr9:16476334-16476335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542162676	chr9:16476347-16476348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574615389	chr9:16476401-16476402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565533742	chr9:16476431-16476432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563607905	chr9:16476462-16476463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575587647	chr9:16476476-16476477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12352484	chr9:16476495-16476496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564099553	chr9:16476526-16476527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202085119	chr9:16476557-16476558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146789375	chr9:16476559-16476560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77473363	chr9:16476560-16476561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200468715	chr9:16476565-16476566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202052962	chr9:16476566-16476567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73645985	chr9:16476567-16476568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74652300	chr9:16476568-16476569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76459822	chr9:16476579-16476580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79445420	chr9:16476580-16476581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79295106	chr9:16476581-16476582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76296135	chr9:16476583-16476584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10962436	chr9:16476640-16476641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193064601	chr9:16476644-16476645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185475906	chr9:16476646-16476647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374428634	chr9:16476648-16476649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7874168	chr9:16476697-16476698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569258289	chr9:16476711-16476712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533670120	chr9:16476781-16476782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80177210	chr9:16476807-16476808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566812156	chr9:16476826-16476827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187492393	chr9:16476840-16476841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555798115	chr9:16476869-16476870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567748509	chr9:16476870-16476871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80223546	chr9:16476908-16476909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577864845	chr9:16476933-16476934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7860831	chr9:16476945-16476946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191998292	chr9:16476966-16476967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7874842	chr9:16476971-16476972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557731721	chr9:16477009-16477010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12348762	chr9:16477038-16477039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557468324	chr9:16477061-16477062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572768014	chr9:16477062-16477063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116010500	chr9:16477086-16477087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561476125	chr9:16477117-16477118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528954577	chr9:16477119-16477120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544446888	chr9:16477185-16477186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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 ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	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

Chromatin state (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16457800-16493400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:16459600-16482400	Weak transcription	A549	lung
3	chr9:16459600-16499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:16459600-16500000	Weak transcription	NHLF	lung
5	chr9:16460800-16485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:16462000-16476400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:16463200-16478000	Weak transcription	Ovary	ovary
8	chr9:16463200-16483800	Weak transcription	Fetal Stomach	stomach
9	chr9:16471000-16504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:16471200-16477800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:16473200-16484400	Weak transcription	HSMM	muscle
12	chr9:16473400-16477600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:16474600-16477200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:16474600-16478000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:16475400-16476600	Enhancers	NHDF-Ad	bronchial
16	chr9:16475600-16476600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:16475600-16477200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16476000-16476400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:16476000-16476400	Enhancers	NH-A	brain
20	chr9:16476000-16477000	Enhancers	Osteobl	bone
21	chr9:16476200-16476800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:16476600-16484000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:16476800-16483600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:16477000-16477200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:16477000-16482800	Weak transcription	Osteobl	bone
26	chr9:16477200-16478600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:16477200-16482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:16477400-16478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:16477600-16478800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:16477800-16478200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:16477800-16478400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:16477800-16478400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:16478000-16478400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:16478000-16478400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:16478000-16478400	Enhancers	Ovary	ovary
36	chr9:16478200-16478400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:16478400-16482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:16478400-16484000	Weak transcription	Ovary	ovary
39	chr9:16478400-16484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:16478600-16483800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr9:16478800-16479200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:16479200-16484600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:16482400-16483400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:16482400-16484400	Enhancers	A549	lung
45	chr9:16482400-16488600	Enhancers	Colon Smooth Muscle	Colon
46	chr9:16482600-16483600	Enhancers	GM12878-XiMat	blood
47	chr9:16482800-16483000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:16482800-16483200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:16482800-16483200	Enhancers	Osteobl	bone
50	chr9:16483000-16485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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