Variant report

Variant	nsv892351
Chromosome Location	chr9:11428893-11462758
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	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
2	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 656 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:656 , 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	rs10756249	chr9:11428893-11428894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555161274	chr9:11428909-11428910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184481382	chr9:11428941-11428942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71501098	chr9:11428954-11428955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187241993	chr9:11428958-11428959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556473042	chr9:11428974-11428975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570028795	chr9:11429051-11429052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10809472	chr9:11429059-11429060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546144809	chr9:11429066-11429067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1335461	chr9:11429068-11429069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1335460	chr9:11429081-11429082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370611299	chr9:11429115-11429116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79996554	chr9:11429152-11429153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1335459	chr9:11429163-11429164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529968061	chr9:11429174-11429175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147018145	chr9:11429192-11429193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10959796	chr9:11429207-11429208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114671129	chr9:11429247-11429248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193258615	chr9:11429286-11429287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552104922	chr9:11429388-11429389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541954683	chr9:11429405-11429406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537931376	chr9:11429434-11429435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555247118	chr9:11429498-11429499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147637798	chr9:11429503-11429504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534530646	chr9:11429564-11429565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12376585	chr9:11429566-11429567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185454758	chr9:11429576-11429577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373633819	chr9:11429653-11429654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556478482	chr9:11429664-11429665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576168246	chr9:11429703-11429704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373864773	chr9:11429716-11429717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560785132	chr9:11429728-11429729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16927517	chr9:11429733-11429734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540397213	chr9:11429850-11429851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560191673	chr9:11429856-11429857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373385827	chr9:11429857-11429858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142211888	chr9:11429885-11429886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561107439	chr9:11429912-11429913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367805266	chr9:11429927-11429928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577747987	chr9:11429934-11429935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568832615	chr9:11430000-11430001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531461724	chr9:11430002-11430003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548289718	chr9:11430018-11430019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529924700	chr9:11430041-11430042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568127595	chr9:11430049-11430050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543461116	chr9:11430050-11430051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534415809	chr9:11430056-11430057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563249073	chr9:11430078-11430079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554292711	chr9:11430096-11430097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549955615	chr9:11430113-11430114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11426600-11431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:11428800-11429200	Weak transcription	Fetal Heart	heart
3	chr9:11429200-11429400	Enhancers	Fetal Heart	heart
4	chr9:11429400-11432400	Weak transcription	Fetal Heart	heart
5	chr9:11431400-11431800	Enhancers	Fetal Brain Male	brain
6	chr9:11431600-11431800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:11431800-11432400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:11432200-11432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:11432400-11434200	Enhancers	Fetal Heart	heart
10	chr9:11433400-11433800	Active TSS	Right Atrium	heart
11	chr9:11434200-11434600	Weak transcription	Fetal Heart	heart
12	chr9:11434600-11435600	Enhancers	Fetal Heart	heart
13	chr9:11447600-11448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:11451600-11451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:11452000-11452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:11455000-11455200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr9:11455200-11457200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:11456000-11456400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:11456400-11456800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:11456400-11458800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:11456600-11457400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:11456600-11457400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:11456800-11457000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:11456800-11457000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:11456800-11457200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:11457000-11457200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:11457000-11458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:11457000-11458000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:11457000-11458800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:11457200-11457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:11457200-11457400	Enhancers	Fetal Brain Female	brain
32	chr9:11457200-11457400	Enhancers	Fetal Kidney	kidney
33	chr9:11457200-11457400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:11457200-11457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:11457200-11457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:11457200-11457800	Enhancers	Fetal Brain Male	brain
37	chr9:11457200-11458000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:11457200-11458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:11457200-11459000	Enhancers	Fetal Heart	heart
40	chr9:11457400-11457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:11457400-11458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:11457400-11458000	Weak transcription	Fetal Kidney	kidney
43	chr9:11457400-11458200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:11457400-11458200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:11457400-11458400	Weak transcription	Fetal Brain Female	brain
46	chr9:11457600-11458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:11457600-11458600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:11457800-11458200	Weak transcription	Fetal Brain Male	brain
49	chr9:11457800-11459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:11458000-11458200	Active TSS	Pancreatic Islets	Pancreatic Islet

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