Variant report

Variant	nsv892638
Chromosome Location	chr9:16106659-16172580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:16118372..16122050-chr9:16122532..16125541,3	MCF-7	breast:
2	chr2:201940410..201941377-chr9:16111067..16111567,2	NB4	blood:
3	chr9:16032565..16033224-chr9:16133403..16134072,3	MCF-7	breast:
4	chr9:15873671..15874276-chr9:16131035..16131676,2	MCF-7	breast:
5	chr9:16122668..16124846-chr9:16126710..16128562,2	K562	blood:
6	chr9:15873337..15874253-chr9:16131080..16131915,3	MCF-7	breast:
7	chr9:15836820..15837651-chr9:16133566..16134324,2	MCF-7	breast:
8	chr9:16032646..16033464-chr9:16130747..16131983,3	MCF-7	breast:
9	chr9:16118372..16122050-chr9:16122532..16125541,3	MCF-7	breast:
10	chr9:16154369..16155237-chr9:16601764..16602655,2	MCF-7	breast:
11	chr9:16122668..16124846-chr9:16126710..16128562,2	K562	blood:
12	chr9:16039283..16040078-chr9:16131109..16131609,2	MCF-7	breast:
13	chr9:16039127..16039773-chr9:16131360..16131916,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf93-1	chr9:16122224-16122432	XLOC_007291
2	lnc-C9orf93-4	chr9:16111131-16111233	NONHSAT130283
3	lnc-C9orf93-1	chr9:16121131-16121233	XLOC_007291
4	lnc-C9orf93-4	chr9:16112224-16112432	NONHSAT130283

No data

Variant related genes	Relation type
POLR3G	miRNA target sites

Extended variants
information (count: 2691 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2691 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs765510	chr9:16106659-16106660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116124819	chr9:16106660-16106661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114529285	chr9:16106736-16106737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139422242	chr9:16106772-16106773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs765509	chr9:16106801-16106802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149955544	chr9:16106811-16106812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144921128	chr9:16106850-16106851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576306603	chr9:16106860-16106861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543727054	chr9:16106906-16106907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545764458	chr9:16106913-16106914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565246902	chr9:16106929-16106930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564250050	chr9:16106939-16106940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531682821	chr9:16107003-16107004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149028217	chr9:16107009-16107010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75561938	chr9:16107033-16107034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530258099	chr9:16107035-16107036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549186866	chr9:16107088-16107089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181822990	chr9:16107100-16107101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538112518	chr9:16107107-16107108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549825499	chr9:16107112-16107113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578134330	chr9:16107126-16107127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571175137	chr9:16107127-16107128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538251426	chr9:16107146-16107147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553768158	chr9:16107174-16107175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184574116	chr9:16107202-16107203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142041701	chr9:16107270-16107271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562120168	chr9:16107301-16107302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554715268	chr9:16107303-16107304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576243973	chr9:16107325-16107326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543666621	chr9:16107340-16107341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558991522	chr9:16107345-16107346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147803048	chr9:16107365-16107366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368992758	chr9:16107380-16107381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189021916	chr9:16107426-16107427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs118052130	chr9:16107434-16107435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542366862	chr9:16107461-16107462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561031968	chr9:16107494-16107495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79189934	chr9:16107523-16107524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549992569	chr9:16107578-16107579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76839956	chr9:16107601-16107602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532469005	chr9:16107631-16107632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181370130	chr9:16107637-16107638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57065171	chr9:16107665-16107666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113922998	chr9:16107669-16107670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566346251	chr9:16107696-16107697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141180536	chr9:16107726-16107727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10962282	chr9:16107739-16107740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200962992	chr9:16107741-16107742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10962283	chr9:16107750-16107751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs111847272	chr9:16107769-16107770	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
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
Ovarian cancer	19835627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16099200-16107400	Enhancers	Fetal Muscle Leg	muscle
2	chr9:16099400-16107000	Enhancers	Ovary	ovary
3	chr9:16099800-16107400	Enhancers	Fetal Stomach	stomach
4	chr9:16100400-16107200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:16102000-16108600	Enhancers	Fetal Lung	lung
6	chr9:16102600-16107000	Enhancers	NHLF	lung
7	chr9:16103600-16107000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:16104400-16106800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:16105000-16107400	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:16105400-16106800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:16105600-16107000	Enhancers	Brain Substantia Nigra	brain
12	chr9:16105800-16107000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:16105800-16107000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:16105800-16107000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:16105800-16107000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:16106000-16106800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:16106000-16106800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:16106000-16107000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:16106000-16107000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:16106000-16107000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:16106000-16107200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:16106200-16106800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:16106200-16106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:16106200-16107000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:16106200-16107000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:16106200-16107000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:16106200-16107200	Enhancers	Adipose Nuclei	Adipose
28	chr9:16106800-16107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:16106800-16109200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:16107000-16108200	Weak transcription	Brain Substantia Nigra	brain
31	chr9:16108400-16108600	Enhancers	Brain Substantia Nigra	brain
32	chr9:16109200-16109600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:16117400-16117600	Enhancers	HSMMtube	muscle
34	chr9:16117400-16118000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:16117600-16118800	Weak transcription	HSMMtube	muscle
36	chr9:16117600-16119400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:16117600-16119600	Enhancers	HSMM	muscle
38	chr9:16117800-16118000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:16118000-16119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:16118400-16119600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:16118600-16120200	Enhancers	NH-A	brain
42	chr9:16118600-16121800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:16118800-16119400	Enhancers	HSMMtube	muscle
44	chr9:16119200-16119600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:16119200-16120000	Enhancers	Hela-S3	cervix
46	chr9:16119200-16120000	Enhancers	Osteobl	bone
47	chr9:16119200-16121800	Enhancers	Ovary	ovary
48	chr9:16119400-16120200	Flanking Active TSS	HSMMtube	muscle
49	chr9:16119400-16121000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr9:16119600-16120000	Flanking Active TSS	HSMM	muscle

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