Variant report

Variant	nsv892203
Chromosome Location	chr9:7545181-7592407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7570819..7572380-chr9:7577523..7579697,2	K562	blood:
2	chr9:7579179..7582103-chr9:7582391..7584856,2	K562	blood:
3	chr9:7579179..7582103-chr9:7582391..7584856,2	K562	blood:
4	chr9:7570819..7572380-chr9:7577523..7579697,2	K562	blood:
5	chr9:7569880..7570683-chr9:8895710..8896327,2	MCF-7	breast:
6	chr9:7569797..7570734-chr9:8895690..8896630,4	MCF-7	breast:
7	chr9:7569899..7570770-chr9:7827280..7828131,4	MCF-7	breast:
8	chr1:121484531..121485420-chr9:7590895..7591415,3	MCF-7	breast:

Extended variants
information (count: 1262 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4742372	chr9:7545181-7545182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539205693	chr9:7545211-7545212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75891778	chr9:7545227-7545228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550544418	chr9:7545232-7545233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182965232	chr9:7545241-7545242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543280607	chr9:7545268-7545269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187311044	chr9:7545304-7545305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573628126	chr9:7545319-7545320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542194764	chr9:7545320-7545321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560327856	chr9:7545339-7545340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190114306	chr9:7545346-7545347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140062118	chr9:7545359-7545360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564634503	chr9:7545423-7545424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10976385	chr9:7545486-7545487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550424072	chr9:7545504-7545505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75908487	chr9:7545514-7545515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529600120	chr9:7545518-7545519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547365442	chr9:7545526-7545527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533040275	chr9:7545576-7545577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565542712	chr9:7545635-7545636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539479922	chr9:7545642-7545643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556803853	chr9:7545673-7545674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11999684	chr9:7545692-7545693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139689327	chr9:7545818-7545819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62530076	chr9:7545825-7545826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114133980	chr9:7545834-7545835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569900489	chr9:7545881-7545882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573872979	chr9:7545892-7545893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371390226	chr9:7545897-7545898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534613725	chr9:7545922-7545923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142989681	chr9:7545937-7545938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572362477	chr9:7545940-7545941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182664230	chr9:7545945-7545946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564549527	chr9:7545951-7545952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576643958	chr9:7545956-7545957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151112262	chr9:7545987-7545988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562315238	chr9:7545989-7545990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187692643	chr9:7546019-7546020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115158291	chr9:7546026-7546027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559268487	chr9:7546034-7546035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532813321	chr9:7546051-7546052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538221700	chr9:7546098-7546099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555038239	chr9:7546155-7546156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112350369	chr9:7546167-7546168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569398917	chr9:7546168-7546169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568533319	chr9:7546171-7546172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193109543	chr9:7546176-7546177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536792825	chr9:7546177-7546178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534311007	chr9:7546190-7546191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570491904	chr9:7546201-7546202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7540800-7549000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:7543000-7548800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:7543200-7548800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:7543200-7548800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:7543400-7548000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:7543400-7548600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:7543400-7548600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:7543600-7548000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:7543600-7549000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:7543600-7549200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:7544000-7548000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:7544000-7549200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:7544400-7547200	Enhancers	Fetal Brain Male	brain
14	chr9:7544600-7549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:7544800-7545200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:7544800-7546000	Enhancers	Fetal Brain Female	brain
17	chr9:7545000-7550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:7545200-7549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:7545200-7549000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:7545400-7545600	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:7545600-7546600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:7546000-7546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr9:7546000-7547200	Weak transcription	Fetal Brain Female	brain
24	chr9:7546400-7546600	Enhancers	Ovary	ovary
25	chr9:7546400-7548800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:7546600-7547000	Enhancers	Primary hematopoietic stem cells	blood
27	chr9:7546600-7547600	Weak transcription	Ovary	ovary
28	chr9:7547000-7548200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:7547200-7547800	Enhancers	Fetal Brain Female	brain
30	chr9:7547600-7548200	Enhancers	Ovary	ovary
31	chr9:7547800-7549000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:7548000-7548400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7548000-7549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:7548000-7549800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:7548000-7549800	Enhancers	Fetal Lung	lung
36	chr9:7548200-7549400	Weak transcription	Ovary	ovary
37	chr9:7548200-7550000	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:7548400-7548600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:7548400-7549000	Enhancers	Dnd41	blood
40	chr9:7548600-7549000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7548600-7549000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:7548600-7549600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr9:7548600-7550000	Enhancers	Thymus	Thymus
44	chr9:7548600-7550200	Enhancers	Fetal Thymus	thymus
45	chr9:7548800-7549600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:7548800-7549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr9:7548800-7549600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr9:7548800-7549800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:7548800-7549800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:7548800-7549800	Enhancers	Fetal Stomach	stomach

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