Variant report

Variant	nsv1021862
Chromosome Location	chr9:17931213-18052101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:200018379..200019256-chr9:18037438..18038367,2	MCF-7	breast:
2	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:

Extended variants
information (count: 5070 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:5070 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534284771	chr9:17931223-17931224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372493761	chr9:17931232-17931233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75676212	chr9:17931291-17931292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568036382	chr9:17931293-17931294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189019006	chr9:17931302-17931303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556723264	chr9:17931336-17931337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180860045	chr9:17931351-17931352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368883225	chr9:17931354-17931355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4325000	chr9:17931364-17931365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558568435	chr9:17931383-17931384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116224200	chr9:17931385-17931386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185451003	chr9:17931388-17931389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190258379	chr9:17931389-17931390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574803797	chr9:17931393-17931394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181476285	chr9:17931422-17931423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140698776	chr9:17931433-17931434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35183350	chr9:17931512-17931513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs531276272	chr9:17931524-17931525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116796631	chr9:17931536-17931537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186873146	chr9:17931555-17931556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118109809	chr9:17931569-17931570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546246203	chr9:17931570-17931571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568183880	chr9:17931593-17931594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114686434	chr9:17931603-17931604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200410979	chr9:17931605-17931606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550409094	chr9:17931613-17931614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569040494	chr9:17931638-17931639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568702474	chr9:17931730-17931731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532864991	chr9:17931731-17931732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79703853	chr9:17931772-17931773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2811822	chr9:17931815-17931816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573024731	chr9:17931835-17931836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533298280	chr9:17931855-17931856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568467475	chr9:17931880-17931881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553074785	chr9:17931904-17931905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574903369	chr9:17931910-17931911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542337891	chr9:17931925-17931926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563910773	chr9:17931963-17931964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191965900	chr9:17931967-17931968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546394668	chr9:17931993-17931994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551480421	chr9:17931997-17931998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564818679	chr9:17932001-17932002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145906242	chr9:17932040-17932041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183703333	chr9:17932046-17932047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546604462	chr9:17932050-17932051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561525108	chr9:17932109-17932110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535804298	chr9:17932111-17932112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138376281	chr9:17932143-17932144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141950416	chr9:17932175-17932176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566810140	chr9:17932182-17932183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17923000-17940000	Weak transcription	Aorta	Aorta
2	chr9:17929400-17932200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:17929400-17932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:17930400-17931400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:17930400-17931600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:17930600-17931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:17930800-17932000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:17931000-17932400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:17931000-17932400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:17931200-17933200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:17931600-17932000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr9:17931600-17932200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:17932000-17932200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:17936200-17936800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:17936400-17937200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:17936800-17943800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:17937200-17937400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:17940000-17940200	ZNF genes & repeats	Aorta	Aorta
19	chr9:17940200-17962200	Weak transcription	Aorta	Aorta
20	chr9:17943800-17944000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr9:17947600-17947800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:17947600-17949400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:17947800-17948400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:17947800-17948400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:17948200-17948800	Enhancers	Brain Germinal Matrix	brain
26	chr9:17948200-17949000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:17948200-17949000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:17948200-17949600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr9:17948200-17949800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:17948400-17949600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:17948800-17950000	Enhancers	Fetal Heart	heart
32	chr9:17949200-17950000	Enhancers	Right Atrium	heart
33	chr9:17953000-17953400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:17955000-17956800	Enhancers	Hela-S3	cervix
35	chr9:17962200-17962400	Enhancers	Aorta	Aorta
36	chr9:17962200-17962400	Weak transcription	Psoas Muscle	Psoas
37	chr9:17962200-17963000	Enhancers	Fetal Muscle Leg	muscle
38	chr9:17962200-17963200	Enhancers	Hela-S3	cervix
39	chr9:17962200-17963400	Enhancers	Fetal Heart	heart
40	chr9:17962400-17962800	Weak transcription	Aorta	Aorta
41	chr9:17962800-17963000	Enhancers	Aorta	Aorta
42	chr9:17962800-17963000	Enhancers	Psoas Muscle	Psoas
43	chr9:17963000-17970600	Weak transcription	Aorta	Aorta
44	chr9:17968000-17970800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr9:17968400-17968600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr9:17970400-17970800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:17970400-17970800	Enhancers	Hela-S3	cervix
48	chr9:17970600-17970800	ZNF genes & repeats	Aorta	Aorta
49	chr9:17974600-17975200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr9:17985600-17987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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