Variant report

Variant	nsv892683
Chromosome Location	chr9:18201083-18226609
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
2	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
3	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
4	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
5	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:
6	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
7	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
8	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
9	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:

No data

Extended variants
information (count: 698 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147851684	chr9:18202643-18202644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542266732	chr9:18202650-18202651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186911424	chr9:18202678-18202679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531236316	chr9:18202679-18202680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191453837	chr9:18202692-18202693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564738949	chr9:18202699-18202700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563793082	chr9:18202751-18202752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567751902	chr9:18202766-18202767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141307775	chr9:18202802-18202803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183120337	chr9:18202807-18202808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146988531	chr9:18202812-18202813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553099763	chr9:18202822-18202823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567835876	chr9:18202823-18202824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368514249	chr9:18202858-18202859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550172027	chr9:18202864-18202865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545578974	chr9:18202865-18202866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370198461	chr9:18202867-18202868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569011713	chr9:18202916-18202917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539767867	chr9:18202922-18202923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187684125	chr9:18202937-18202938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566696250	chr9:18202940-18202941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141982581	chr9:18202952-18202953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535103627	chr9:18202954-18202955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137986960	chr9:18202989-18202990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149071059	chr9:18203023-18203024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542195622	chr9:18203038-18203039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143021646	chr9:18203039-18203040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73424960	chr9:18203042-18203043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141151577	chr9:18203060-18203061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564500470	chr9:18203072-18203073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79948682	chr9:18203111-18203112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556685376	chr9:18203113-18203114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146144187	chr9:18203118-18203119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191062516	chr9:18203119-18203120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528960394	chr9:18203152-18203153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550158139	chr9:18203158-18203159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568875347	chr9:18203193-18203194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182254472	chr9:18203195-18203196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571901773	chr9:18203217-18203218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532875293	chr9:18203244-18203245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566677403	chr9:18203268-18203269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533942836	chr9:18203271-18203272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555602101	chr9:18203273-18203274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139024661	chr9:18203274-18203275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75819206	chr9:18203328-18203329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557059650	chr9:18203374-18203375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575622081	chr9:18203404-18203405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187765886	chr9:18203413-18203414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146373288	chr9:18203428-18203429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7852445	chr9:18203454-18203455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18202600-18208000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:18203600-18204000	Enhancers	Fetal Intestine Small	intestine
3	chr9:18204000-18208600	Weak transcription	Fetal Intestine Small	intestine
4	chr9:18207400-18209400	Enhancers	Liver	Liver
5	chr9:18207800-18209000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:18208000-18208600	Enhancers	Pancreas	Pancrea
7	chr9:18208000-18208600	Enhancers	Stomach Mucosa	stomach
8	chr9:18208000-18208800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:18208000-18208800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr9:18208000-18208800	Enhancers	HMEC	breast
11	chr9:18208400-18208800	Enhancers	Duodenum Mucosa	Duodenum
12	chr9:18208400-18208800	Enhancers	Fetal Kidney	kidney
13	chr9:18208400-18210200	Enhancers	Fetal Intestine Large	intestine
14	chr9:18208600-18209200	Enhancers	Fetal Intestine Small	intestine
15	chr9:18208800-18209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:18208800-18209800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:18209000-18210000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:18209200-18210000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr9:18209200-18210000	Weak transcription	Fetal Intestine Small	intestine
20	chr9:18209600-18210200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr9:18209800-18210000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr9:18210000-18210200	Enhancers	Fetal Intestine Small	intestine
23	chr9:18210000-18210200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr9:18210200-18213000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:18210200-18213200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:18211800-18212000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:18212000-18213000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:18212000-18213400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:18212600-18213400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:18212800-18213200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:18212800-18213200	Enhancers	Fetal Brain Male	brain
32	chr9:18212800-18213400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:18213000-18213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:18213000-18213400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:18213000-18213400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:18213000-18213400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:18213000-18213400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:18213000-18213400	Active TSS	Fetal Brain Female	brain
39	chr9:18213000-18213400	Enhancers	Fetal Heart	heart
40	chr9:18213200-18213400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:18213200-18213400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
42	chr9:18213200-18213400	Enhancers	Brain Angular Gyrus	brain
43	chr9:18213200-18213400	Enhancers	Brain Cingulate Gyrus	brain
44	chr9:18213200-18213400	Enhancers	Fetal Intestine Small	intestine
45	chr9:18213200-18213400	Enhancers	Fetal Lung	lung
46	chr9:18213200-18213400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:18213200-18213400	Flanking Active TSS	Osteobl	bone
48	chr9:18213400-18215600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:18215600-18216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:18216200-18216600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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