Variant report

Variant	nsv613948
Chromosome Location	chr9:27232748-27250868
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:3)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:27033902..27034442-chr9:27247489..27248319,2	MCF-7	breast:
2	chr9:27247423..27248703-chr9:27275999..27276820,3	MCF-7	breast:
3	chr9:27247560..27248337-chr9:27547652..27548456,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf11-1	chr9:27237388-27237508	NONHSAT130610
2	lnc-C9orf11-1	chr9:27237388-27237508	l_3745_NR_026687
3	lnc-C9orf11-1	chr9:27248410-27248517	NONHSAT130610
4	lnc-C9orf11-1	chr9:27235684-27235760	l_3745_NR_026687
5	lnc-C9orf11-1	chr9:27248693-27248766	NONHSAT130610
6	lnc-C9orf11-1	chr9:27248410-27248517	l_3745_NR_026687
7	lnc-C9orf11-1	chr9:27248693-27248766	l_3745_NR_026687
8	lnc-TEK-2	chr9:27245472-27245673	XLOC_007307
9	lnc-C9orf11-1	chr9:27235682-27235760	NONHSAT130610
10	lnc-TEK-2	chr9:27245986-27246282	XLOC_007307

No data

Variant related genes	Relation type
ATP6V1B2	miRNA target sites

Extended variants
information (count: 201 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1322048	chr9:27232748-27232749	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536129959	chr9:27232751-27232752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs554179948	chr9:27232769-27232770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572486305	chr9:27232791-27232792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533666642	chr9:27232834-27232835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183005271	chr9:27232853-27232854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565340246	chr9:27232857-27232858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558337160	chr9:27232901-27232902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376737288	chr9:27232958-27232959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577378738	chr9:27232961-27232962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs72614302	chr9:27232983-27232984	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563095681	chr9:27233037-27233038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575071870	chr9:27233038-27233039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542517901	chr9:27233041-27233042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535292910	chr9:27233056-27233057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs372793931	chr9:27233059-27233060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577250732	chr9:27233093-27233094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188497175	chr9:27233095-27233096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs144734907	chr9:27233107-27233108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192931796	chr9:27233138-27233139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7858722	chr9:27233157-27233158	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550540940	chr9:27233165-27233166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539524812	chr9:27233192-27233193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569017123	chr9:27233197-27233198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536170917	chr9:27233198-27233199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185573423	chr9:27233229-27233230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140579061	chr9:27233231-27233232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs4878367	chr9:27233272-27233273	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143701224	chr9:27233282-27233283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs7858963	chr9:27233333-27233334	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148094225	chr9:27233337-27233338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141837668	chr9:27233359-27233360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs57643002	chr9:27233366-27233367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs4878368	chr9:27233367-27233368	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs542554007	chr9:27233379-27233380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs555796565	chr9:27233419-27233420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572472064	chr9:27233422-27233423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189574852	chr9:27233437-27233438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564495969	chr9:27233490-27233491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67280577	chr9:27233505-27233506	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4878369	chr9:27233523-27233524	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563068297	chr9:27233531-27233532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562565327	chr9:27233535-27233536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529806191	chr9:27233536-27233537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4878370	chr9:27233556-27233557	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566386099	chr9:27233557-27233558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150702557	chr9:27233567-27233568	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191369010	chr9:27233570-27233571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551928211	chr9:27233604-27233605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570413908	chr9:27233646-27233647	Weak 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
Cancer	21215367	CNVD
Renal cell carcinoma	21215367	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27213000-27232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:27229400-27232800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:27231600-27233200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:27231800-27233600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:27232600-27233600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:27232800-27233400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:27232800-27233600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:27233400-27234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:27247600-27248200	Enhancers	Stomach Mucosa	stomach
10	chr9:27247600-27248600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:27247600-27249400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:27247800-27248600	Enhancers	Placenta	Placenta
13	chr9:27247800-27249000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:27247800-27249200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:27247800-27249200	Enhancers	NHEK	skin
16	chr9:27247800-27249400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:27247800-27249400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:27247800-27249400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:27247800-27249400	Enhancers	Osteobl	bone
20	chr9:27248000-27248800	Enhancers	Hela-S3	cervix
21	chr9:27248200-27249400	Enhancers	HSMM	muscle
22	chr9:27248400-27249200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:27249000-27249200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links