Variant report

Variant	nsv892221
Chromosome Location	chr9:8075139-8123943
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	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:
2	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-16	chr9:8085728-8085987	uc_249_+
2	lnc-C9orf123-8	chr9:8085728-8085987	uc_249_-

Extended variants
information (count: 541 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548406217	chr9:8078807-8078808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532220874	chr9:8078841-8078842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551442487	chr9:8078872-8078873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570087636	chr9:8078913-8078914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147566063	chr9:8078915-8078916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386732292	chr9:8078934-8078935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7861629	chr9:8078936-8078937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535325377	chr9:8078957-8078958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553746330	chr9:8078978-8078979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67938966	chr9:8078979-8078980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112093801	chr9:8078986-8078987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539269205	chr9:8079017-8079018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187889441	chr9:8079018-8079019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575263501	chr9:8079020-8079021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141930999	chr9:8079030-8079031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554279381	chr9:8079031-8079032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572546851	chr9:8079041-8079042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540133582	chr9:8079066-8079067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370567511	chr9:8079088-8079089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191136667	chr9:8079090-8079091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544095144	chr9:8079104-8079105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563777344	chr9:8079138-8079139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530914471	chr9:8079141-8079142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549494917	chr9:8079159-8079160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74528593	chr9:8079165-8079166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528521044	chr9:8079186-8079187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550099684	chr9:8084214-8084215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374703904	chr9:8084234-8084235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34276142	chr9:8084248-8084249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368836627	chr9:8084252-8084253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563908065	chr9:8084265-8084266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12348920	chr9:8084274-8084275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533900557	chr9:8084278-8084279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568016439	chr9:8084289-8084290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138402915	chr9:8084300-8084301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184356924	chr9:8084303-8084304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190512865	chr9:8084306-8084307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114213655	chr9:8084353-8084354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143888801	chr9:8084359-8084360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34555550	chr9:8084366-8084367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375914681	chr9:8084382-8084383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574660247	chr9:8084394-8084395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147311479	chr9:8084402-8084403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577431367	chr9:8084413-8084414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148348255	chr9:8084414-8084415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59726302	chr9:8084431-8084432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552030299	chr9:8084450-8084451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564085712	chr9:8084452-8084453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531240695	chr9:8084501-8084502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550065173	chr9:8084522-8084523	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
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8078800-8079200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr9:8084200-8086600	Enhancers	Brain Germinal Matrix	brain
3	chr9:8085000-8086400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:8085200-8085600	Enhancers	Fetal Lung	lung
5	chr9:8085200-8086400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:8085600-8086600	Bivalent Enhancer	Fetal Lung	lung
7	chr9:8093200-8093600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:8095400-8096400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:8095400-8096800	Enhancers	Brain Germinal Matrix	brain
10	chr9:8095600-8096600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:8095600-8096600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8095600-8096800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:8096000-8096400	Enhancers	Fetal Brain Male	brain
14	chr9:8109200-8109400	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr9:8109200-8109600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:8109600-8109800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:8109600-8109800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:8109800-8110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:8109800-8111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:8110200-8111000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:8110800-8111000	Bivalent/Poised TSS	Stomach Mucosa	stomach
22	chr9:8110800-8111200	Enhancers	Brain Hippocampus Middle	brain
23	chr9:8110800-8111200	Enhancers	Brain Substantia Nigra	brain
24	chr9:8111000-8111200	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr9:8111000-8112400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:8111200-8112200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:8111200-8112200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:8111400-8112400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:8111400-8113200	Enhancers	Stomach Mucosa	stomach
30	chr9:8111600-8112200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:8111800-8112400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:8111800-8112600	Enhancers	Fetal Heart	heart
33	chr9:8113800-8114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:8114800-8115200	Enhancers	Dnd41	blood
35	chr9:8118200-8119000	Enhancers	Ovary	ovary
36	chr9:8118400-8118800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links