Variant report

Variant	nsv1027321
Chromosome Location	chr9:7239198-7270363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
2	chr9:7052694..7053246-chr9:7259513..7260136,3	MCF-7	breast:
3	chr9:7093984..7094670-chr9:7259334..7260480,4	MCF-7	breast:
4	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:

Extended variants
information (count: 1393 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1393 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2381573	chr9:7239198-7239199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs187437462	chr9:7239201-7239202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554268079	chr9:7239205-7239206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191012464	chr9:7239207-7239208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58774998	chr9:7239213-7239214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574267939	chr9:7239216-7239217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540739185	chr9:7239218-7239219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554702172	chr9:7239224-7239225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568354471	chr9:7239236-7239237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568437379	chr9:7239270-7239271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142366101	chr9:7239312-7239313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71505843	chr9:7239322-7239323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573003563	chr9:7239341-7239342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10815565	chr9:7239370-7239371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs558252387	chr9:7239383-7239384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576555303	chr9:7239399-7239400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543886386	chr9:7239406-7239407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562541934	chr9:7239411-7239412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10815566	chr9:7239415-7239416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs542521152	chr9:7239436-7239437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544240171	chr9:7239452-7239453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563217346	chr9:7239457-7239458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183424408	chr9:7239480-7239481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80098211	chr9:7239481-7239482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552834132	chr9:7239492-7239493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564654657	chr9:7239534-7239535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572752530	chr9:7239539-7239540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56151900	chr9:7239540-7239541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544825188	chr9:7239544-7239545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397803150	chr9:7239547-7239548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530412563	chr9:7239572-7239573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531882119	chr9:7239577-7239578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550005367	chr9:7239602-7239603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187701399	chr9:7239640-7239641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192200771	chr9:7239696-7239697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184230763	chr9:7239747-7239748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566625440	chr9:7239773-7239774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188315577	chr9:7239800-7239801	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144569699	chr9:7239830-7239831	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs575277979	chr9:7239910-7239911	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs370077243	chr9:7239927-7239928	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs542468925	chr9:7239929-7239930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs576616298	chr9:7239936-7239937	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs56410421	chr9:7239958-7239959	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555947683	chr9:7239959-7239960	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs10976138	chr9:7239961-7239962	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541435919	chr9:7239962-7239963	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs138591253	chr9:7239972-7239973	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs141685036	chr9:7239977-7239978	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs546511469	chr9:7240006-7240007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7231200-7239400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:7231200-7239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:7234200-7239800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:7235600-7239400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:7235800-7239400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:7238000-7239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:7238000-7239200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:7238000-7240800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:7238000-7240800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:7238000-7240800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:7238200-7240000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:7238200-7240800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:7238400-7239600	Weak transcription	Osteobl	bone
14	chr9:7238800-7239400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:7238800-7239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:7239000-7241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:7239000-7241400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:7239200-7239600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:7239200-7239800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:7239400-7240000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:7239400-7241200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:7239400-7241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:7239400-7242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:7239600-7240000	Enhancers	Osteobl	bone
25	chr9:7239600-7240400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:7239800-7240000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:7239800-7240000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:7239800-7240000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:7239800-7240000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:7239800-7240200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:7239800-7240400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:7239800-7240400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:7240000-7240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:7240000-7241000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr9:7240000-7241000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:7240200-7241200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:7240400-7240800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:7240800-7241000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr9:7240800-7241200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr9:7240800-7241400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:7240800-7241400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr9:7240800-7241400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr9:7240800-7241400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr9:7241000-7241200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:7241000-7241200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr9:7241000-7241800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:7241200-7241400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr9:7241200-7242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:7241200-7242000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:7241400-7241600	Enhancers	HUES48 Cell Line	embryonic stem cell

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