Variant report

Variant	nsv819452
Chromosome Location	chr9:8874309-8877953
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	chr9:8868603..8871582-chr9:8873717..8875264,2	K562	blood:

Extended variants
information (count: 166 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117300604	chr9:8874355-8874356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35071532	chr9:8874360-8874361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543193434	chr9:8874361-8874362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76083353	chr9:8874362-8874363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147175490	chr9:8874366-8874367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376892586	chr9:8874369-8874370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569500553	chr9:8874382-8874383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536572235	chr9:8874383-8874384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554527470	chr9:8874432-8874433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566565793	chr9:8874442-8874443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34282069	chr9:8874465-8874466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74952756	chr9:8874511-8874512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532485015	chr9:8874536-8874537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10977328	chr9:8874593-8874594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76940994	chr9:8874604-8874605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10759012	chr9:8874611-8874612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558532542	chr9:8874622-8874623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140754209	chr9:8874630-8874631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72614089	chr9:8874640-8874641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75933889	chr9:8874671-8874672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375850922	chr9:8874779-8874780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10977329	chr9:8874786-8874787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143085004	chr9:8874814-8874815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151160462	chr9:8874818-8874819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531323757	chr9:8874840-8874841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574994810	chr9:8874844-8874845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10815981	chr9:8874875-8874876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534617513	chr9:8874900-8874901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189284954	chr9:8874913-8874914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140323157	chr9:8874944-8874945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182012490	chr9:8874946-8874947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548362988	chr9:8874984-8874985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566825436	chr9:8875006-8875007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533890097	chr9:8875025-8875026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150345612	chr9:8875037-8875038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570895049	chr9:8875044-8875045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74486673	chr9:8875051-8875052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138231678	chr9:8875054-8875055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561965923	chr9:8875058-8875059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143727173	chr9:8875060-8875061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112711113	chr9:8875067-8875068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7848766	chr9:8875101-8875102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386732391	chr9:8875108-8875109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10977331	chr9:8875109-8875110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185038111	chr9:8875120-8875121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563948317	chr9:8875123-8875124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189955960	chr9:8875142-8875143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543192416	chr9:8875151-8875152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563093882	chr9:8875191-8875192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530185488	chr9:8875245-8875246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
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
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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8869400-8876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:8870000-8874400	Weak transcription	Left Ventricle	heart
3	chr9:8871000-8876000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:8871000-8879800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:8871200-8874400	Weak transcription	Right Ventricle	heart
6	chr9:8871200-8875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:8871400-8883000	Weak transcription	Fetal Intestine Small	intestine
8	chr9:8872400-8876200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:8873000-8877800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:8873200-8875600	Weak transcription	Brain Hippocampus Middle	brain
11	chr9:8873200-8875800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:8873200-8877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:8873200-8878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:8873400-8874400	Weak transcription	Brain Substantia Nigra	brain
15	chr9:8873800-8874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:8873800-8875200	Enhancers	Fetal Heart	heart
17	chr9:8873800-8877600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:8874000-8877800	Weak transcription	Brain Anterior Caudate	brain
19	chr9:8874000-8878800	Weak transcription	Brain Angular Gyrus	brain
20	chr9:8874400-8874600	Enhancers	Left Ventricle	heart
21	chr9:8874400-8874600	Enhancers	Right Ventricle	heart
22	chr9:8874400-8875000	Enhancers	Brain Substantia Nigra	brain
23	chr9:8875000-8875400	Weak transcription	Brain Substantia Nigra	brain
24	chr9:8875200-8876200	Weak transcription	Fetal Heart	heart
25	chr9:8875400-8876600	Enhancers	Brain Substantia Nigra	brain
26	chr9:8875600-8876000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:8875600-8880400	Enhancers	Brain Hippocampus Middle	brain
28	chr9:8875800-8876000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:8876000-8876400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:8876000-8876600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:8876000-8876800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:8876200-8876400	Enhancers	Fetal Heart	heart
33	chr9:8876200-8876800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:8876200-8876800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:8876200-8877000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:8876200-8877000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:8876400-8876600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:8876600-8877800	Weak transcription	Brain Substantia Nigra	brain
39	chr9:8876600-8879800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:8877000-8877200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:8877600-8879600	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:8877800-8878400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:8877800-8878800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr9:8877800-8879000	Enhancers	Brain Anterior Caudate	brain
45	chr9:8877800-8880200	Enhancers	Brain Substantia Nigra	brain

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