Variant report

Variant	nsv1020855
Chromosome Location	chr9:17929044-17975791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2066 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2066 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16936123	chr9:17929044-17929045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568484798	chr9:17929058-17929059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139797305	chr9:17929065-17929066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555597143	chr9:17929082-17929083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145221086	chr9:17929096-17929097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538060714	chr9:17929119-17929120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118065898	chr9:17929121-17929122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187508190	chr9:17929122-17929123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538922828	chr9:17929137-17929138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4961612	chr9:17929195-17929196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs199926469	chr9:17929212-17929213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75140222	chr9:17929238-17929239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12115754	chr9:17929247-17929248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs118017852	chr9:17929268-17929269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113527396	chr9:17929280-17929281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543682454	chr9:17929288-17929289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191484897	chr9:17929290-17929291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184004156	chr9:17929304-17929305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547699547	chr9:17929332-17929333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559564623	chr9:17929375-17929376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55790445	chr9:17929377-17929378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372994108	chr9:17929390-17929391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201529299	chr9:17929397-17929398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544290652	chr9:17929401-17929402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200534324	chr9:17929403-17929404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549315058	chr9:17929428-17929429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567666735	chr9:17929435-17929436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75845951	chr9:17929446-17929447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4961613	chr9:17929499-17929500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571490103	chr9:17929538-17929539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567868255	chr9:17929563-17929564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570169578	chr9:17929580-17929581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187340613	chr9:17929608-17929609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572651908	chr9:17929623-17929624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535878168	chr9:17929662-17929663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535278453	chr9:17929669-17929670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34537229	chr9:17929767-17929768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554540213	chr9:17929781-17929782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147606176	chr9:17929825-17929826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550425878	chr9:17929827-17929828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74732257	chr9:17929868-17929869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577129311	chr9:17929885-17929886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73646032	chr9:17929927-17929928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575707931	chr9:17929946-17929947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192126728	chr9:17929966-17929967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569154362	chr9:17929967-17929968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539427585	chr9:17929995-17929996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549153056	chr9:17930027-17930028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561310484	chr9:17930050-17930051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558165755	chr9:17930054-17930055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17923000-17940000	Weak transcription	Aorta	Aorta
2	chr9:17925800-17929400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:17929400-17929600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr9:17929400-17929600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:17929400-17929800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:17929400-17930000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:17929400-17931000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:17929400-17932200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:17929400-17932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:17929600-17930800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:17929800-17930200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:17929800-17931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:17930200-17930400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:17930400-17930600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:17930400-17931400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:17930400-17931600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:17930600-17931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:17930800-17932000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:17931000-17932400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:17931000-17932400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:17931200-17933200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:17931600-17932000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:17931600-17932200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:17932000-17932200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:17936200-17936800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:17936400-17937200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:17936800-17943800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:17937200-17937400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:17940000-17940200	ZNF genes & repeats	Aorta	Aorta
30	chr9:17940200-17962200	Weak transcription	Aorta	Aorta
31	chr9:17943800-17944000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr9:17947600-17947800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:17947600-17949400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:17947800-17948400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr9:17947800-17948400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:17948200-17948800	Enhancers	Brain Germinal Matrix	brain
37	chr9:17948200-17949000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr9:17948200-17949000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:17948200-17949600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:17948200-17949800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr9:17948400-17949600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:17948800-17950000	Enhancers	Fetal Heart	heart
43	chr9:17949200-17950000	Enhancers	Right Atrium	heart
44	chr9:17953000-17953400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:17955000-17956800	Enhancers	Hela-S3	cervix
46	chr9:17962200-17962400	Enhancers	Aorta	Aorta
47	chr9:17962200-17962400	Weak transcription	Psoas Muscle	Psoas
48	chr9:17962200-17963000	Enhancers	Fetal Muscle Leg	muscle
49	chr9:17962200-17963200	Enhancers	Hela-S3	cervix
50	chr9:17962200-17963400	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links