Variant report

Variant	nsv613287
Chromosome Location	chr9:8408453-8422302
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	chr9:8416687..8418830-chr9:8420950..8422628,2	K562	blood:
2	chr9:8416687..8418830-chr9:8420950..8422628,2	K562	blood:

Extended variants
information (count: 673 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:673 , 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	rs10815855	chr9:8408453-8408454	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs17561435	chr9:8408488-8408489	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553358693	chr9:8408496-8408497	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192779514	chr9:8408497-8408498	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184405983	chr9:8408512-8408513	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377186564	chr9:8408547-8408548	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7853978	chr9:8408552-8408553	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575791836	chr9:8408553-8408554	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10815856	chr9:8408582-8408583	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs77208823	chr9:8408624-8408625	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572554192	chr9:8408626-8408627	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562569910	chr9:8408649-8408650	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564689909	chr9:8408662-8408663	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549373222	chr9:8408669-8408670	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532118008	chr9:8408682-8408683	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550629202	chr9:8408686-8408687	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10977057	chr9:8408692-8408693	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186557533	chr9:8408702-8408703	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12156512	chr9:8408724-8408725	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12338038	chr9:8408749-8408750	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192505588	chr9:8408766-8408767	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12338043	chr9:8408776-8408777	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571589552	chr9:8408779-8408780	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3903826	chr9:8408803-8408804	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs557406871	chr9:8408810-8408811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575851660	chr9:8408817-8408818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527572435	chr9:8408835-8408836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184549977	chr9:8408860-8408861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140655175	chr9:8408876-8408877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60756682	chr9:8408893-8408894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202005087	chr9:8408895-8408896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398068427	chr9:8408896-8408897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554713546	chr9:8408901-8408902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572617842	chr9:8408908-8408909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539972343	chr9:8408920-8408921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564971135	chr9:8408947-8408948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576811225	chr9:8408951-8408952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3903827	chr9:8408955-8408956	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373839390	chr9:8408958-8408959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562650523	chr9:8408970-8408971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78389188	chr9:8408979-8408980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532494368	chr9:8409011-8409012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373310039	chr9:8409033-8409034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548428324	chr9:8409039-8409040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117939866	chr9:8409068-8409069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189123572	chr9:8409128-8409129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10977058	chr9:8409162-8409163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571703452	chr9:8409174-8409175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569304356	chr9:8409237-8409238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181648319	chr9:8409296-8409297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
3	chr9:8396000-8410400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:8402400-8408600	Weak transcription	Brain Germinal Matrix	brain
5	chr9:8402400-8421000	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:8402600-8408600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:8402800-8438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:8405800-8438000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:8407600-8410800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:8407600-8410800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:8407800-8410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:8407800-8414600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:8408000-8408800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:8408000-8408800	Enhancers	Brain Anterior Caudate	brain
16	chr9:8408000-8410600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:8408200-8408800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr9:8408200-8409400	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8408200-8409800	Weak transcription	Brain Substantia Nigra	brain
20	chr9:8408200-8429200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:8408400-8408600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:8408400-8408800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:8408400-8409200	Enhancers	Dnd41	blood
24	chr9:8408400-8410400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:8408400-8410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:8408600-8409400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:8408600-8409400	Enhancers	Fetal Thymus	thymus
28	chr9:8408600-8410600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:8408600-8410600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:8408600-8410600	Enhancers	Brain Germinal Matrix	brain
31	chr9:8408800-8409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr9:8408800-8409800	Weak transcription	Brain Anterior Caudate	brain
33	chr9:8408800-8410600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:8408800-8410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:8409000-8410400	Enhancers	Primary T cells from cord blood	blood
36	chr9:8409200-8410400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr9:8409200-8410400	Flanking Active TSS	Dnd41	blood
38	chr9:8409400-8409600	Enhancers	Brain Angular Gyrus	brain
39	chr9:8409400-8410200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:8409400-8410200	Weak transcription	Fetal Thymus	thymus
41	chr9:8409800-8410000	Enhancers	Brain Anterior Caudate	brain
42	chr9:8409800-8410400	Enhancers	Brain Substantia Nigra	brain
43	chr9:8410000-8410400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:8410200-8410400	Enhancers	Fetal Thymus	thymus
45	chr9:8410200-8410600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr9:8410400-8410600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:8410400-8410800	Enhancers	Dnd41	blood
48	chr9:8410400-8415000	Weak transcription	Ovary	ovary
49	chr9:8410400-8420200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr9:8410600-8415000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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