Variant report

Variant	nsv892679
Chromosome Location	chr9:18044802-18226609
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:0)
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	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
2	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
3	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
4	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
5	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
6	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
7	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
8	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
9	chr1:121482984..121485223-chr9:18152239..18154322,2	MCF-7	breast:
10	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
11	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
12	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
13	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:

No data

Extended variants
information (count: 6910 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:6910 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963408	chr9:18044802-18044803	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568367957	chr9:18044830-18044831	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16936268	chr9:18044862-18044863	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183827246	chr9:18044871-18044872	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551879717	chr9:18044880-18044881	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189192634	chr9:18044905-18044906	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372327593	chr9:18044910-18044911	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374226537	chr9:18044961-18044962	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537531873	chr9:18044982-18044983	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559126534	chr9:18044992-18044993	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191191210	chr9:18045044-18045045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535036878	chr9:18045053-18045054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553355423	chr9:18045074-18045075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13298926	chr9:18045090-18045091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113630350	chr9:18045101-18045102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150186275	chr9:18045104-18045105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73643502	chr9:18045128-18045129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182108361	chr9:18045134-18045135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139055483	chr9:18045155-18045156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77851628	chr9:18045156-18045157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186713894	chr9:18045242-18045243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368401305	chr9:18045248-18045249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540242188	chr9:18045263-18045264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191520664	chr9:18045277-18045278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142878033	chr9:18045313-18045314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550943644	chr9:18045328-18045329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34716345	chr9:18045335-18045336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184899720	chr9:18045343-18045344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562655008	chr9:18045347-18045348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528598639	chr9:18045382-18045383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540778063	chr9:18045431-18045432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538437708	chr9:18045454-18045455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533188317	chr9:18045463-18045464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552672617	chr9:18045471-18045472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116129653	chr9:18045531-18045532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534669917	chr9:18045549-18045550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189976487	chr9:18045559-18045560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568408609	chr9:18045626-18045627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536138512	chr9:18045668-18045669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557267010	chr9:18045768-18045769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575412293	chr9:18045772-18045773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539667115	chr9:18045776-18045777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193197956	chr9:18045792-18045793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572907104	chr9:18045794-18045795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539800204	chr9:18045795-18045796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185504999	chr9:18045816-18045817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147018220	chr9:18045819-18045820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138111978	chr9:18045840-18045841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149521091	chr9:18045867-18045868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551018479	chr9:18045883-18045884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18038400-18061600	Weak transcription	Aorta	Aorta
2	chr9:18044600-18046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:18044800-18045000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:18045200-18046400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:18052000-18052200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:18052000-18052400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr9:18052400-18056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:18053600-18053800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:18054600-18055400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr9:18054600-18056000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:18054800-18056000	Enhancers	Fetal Lung	lung
12	chr9:18055400-18056600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:18056000-18056400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:18056000-18058800	Weak transcription	Fetal Lung	lung
15	chr9:18056000-18059400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:18056400-18057000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr9:18056400-18057200	Enhancers	Ovary	ovary
18	chr9:18056400-18057800	Enhancers	GM12878-XiMat	blood
19	chr9:18056600-18057200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr9:18056600-18057400	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:18057000-18057800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:18057200-18059000	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:18057200-18059000	Weak transcription	Ovary	ovary
24	chr9:18057200-18059000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:18057600-18058000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:18057800-18059000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:18058000-18059800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:18058200-18059200	Enhancers	Fetal Intestine Small	intestine
29	chr9:18058600-18059200	Enhancers	Fetal Intestine Large	intestine
30	chr9:18058800-18059000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr9:18058800-18059200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:18058800-18059200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:18058800-18059200	Enhancers	Fetal Lung	lung
34	chr9:18058800-18059200	Enhancers	Stomach Mucosa	stomach
35	chr9:18058800-18059400	Enhancers	Small Intestine	intestine
36	chr9:18059000-18059400	Enhancers	Ovary	ovary
37	chr9:18059000-18059400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr9:18059000-18059400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:18059000-18059400	Enhancers	Hela-S3	cervix
40	chr9:18059000-18059800	Enhancers	Colon Smooth Muscle	Colon
41	chr9:18059000-18060400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:18059000-18060800	Enhancers	Liver	Liver
43	chr9:18059200-18060400	Weak transcription	Fetal Lung	lung
44	chr9:18059200-18060800	Weak transcription	Fetal Intestine Large	intestine
45	chr9:18059200-18061000	Weak transcription	Fetal Intestine Small	intestine
46	chr9:18059200-18062000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:18059200-18063600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:18059400-18060200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:18059400-18061000	Weak transcription	Small Intestine	intestine
50	chr9:18059400-18061200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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