Variant report

Variant	nsv526323
Chromosome Location	chr9:6508149-6510453
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	chr9:6504123..6506541-chr9:6507327..6509655,2	K562	blood:

Variant related genes	Relation type
ENSG00000147854	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs10975612	chr9:6508149-6508150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575975335	chr9:6508159-6508160	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200914324	chr9:6508191-6508192	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528807681	chr9:6508217-6508218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377449602	chr9:6508219-6508220	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546659191	chr9:6508222-6508223	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373873860	chr9:6508227-6508228	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77836549	chr9:6508234-6508235	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565329915	chr9:6508246-6508247	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199803086	chr9:6508254-6508255	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147730428	chr9:6508296-6508297	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376754525	chr9:6508320-6508321	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550622245	chr9:6508325-6508326	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569026986	chr9:6508331-6508332	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs118082975	chr9:6508332-6508333	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141009243	chr9:6508342-6508343	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567207933	chr9:6508373-6508374	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542173817	chr9:6508377-6508378	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142473906	chr9:6508382-6508383	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs151331930	chr9:6508416-6508417	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373086407	chr9:6508429-6508430	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188178194	chr9:6508439-6508440	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562376895	chr9:6508471-6508472	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180889253	chr9:6508476-6508477	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115093665	chr9:6508519-6508520	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575431354	chr9:6508520-6508521	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186300827	chr9:6508524-6508525	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189619715	chr9:6508525-6508526	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573457545	chr9:6508526-6508527	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78421684	chr9:6508533-6508534	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577615723	chr9:6508534-6508535	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201118305	chr9:6508578-6508579	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181863832	chr9:6508588-6508589	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544222902	chr9:6508601-6508602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562621368	chr9:6508619-6508620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186871902	chr9:6508628-6508629	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541595903	chr9:6508636-6508637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567499331	chr9:6508637-6508638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191348810	chr9:6508650-6508651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546830505	chr9:6508654-6508655	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571466365	chr9:6508673-6508674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538598524	chr9:6508677-6508678	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557022220	chr9:6508690-6508691	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564662826	chr9:6508695-6508696	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78378946	chr9:6508696-6508697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536390478	chr9:6508716-6508717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374740539	chr9:6508725-6508726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140058578	chr9:6508747-6508748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150300006	chr9:6508754-6508755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73639309	chr9:6508808-6508809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
2	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr9:6475800-6509000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:6475800-6510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:6476000-6509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:6477800-6511000	Weak transcription	Fetal Heart	heart
11	chr9:6480200-6508400	Weak transcription	Stomach Mucosa	stomach
12	chr9:6487600-6510600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:6492800-6508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:6493000-6509000	Strong transcription	Adipose Nuclei	Adipose
15	chr9:6493400-6508400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:6493800-6508200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr9:6494000-6508800	Strong transcription	GM12878-XiMat	blood
18	chr9:6495000-6508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr9:6495200-6510800	Strong transcription	Fetal Thymus	thymus
20	chr9:6495400-6510200	Strong transcription	HUVEC	blood vessel
21	chr9:6495400-6510600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:6495400-6511400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:6496400-6508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:6496800-6508400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:6498800-6554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:6499000-6511400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:6499000-6528400	Weak transcription	Pancreas	Pancrea
28	chr9:6500800-6510200	Weak transcription	Colonic Mucosa	Colon
29	chr9:6500800-6517400	Weak transcription	Esophagus	oesophagus
30	chr9:6501800-6510400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:6502200-6508200	Strong transcription	Fetal Stomach	stomach
32	chr9:6502200-6513600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:6502600-6512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr9:6502600-6512400	Weak transcription	Aorta	Aorta
35	chr9:6503000-6509800	Strong transcription	A549	lung
36	chr9:6503800-6509000	Strong transcription	Liver	Liver
37	chr9:6504200-6508600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:6504200-6508800	Strong transcription	Dnd41	blood
39	chr9:6504400-6508200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:6504400-6508400	Strong transcription	Primary B cells from cord blood	blood
41	chr9:6504400-6508800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr9:6504400-6508800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr9:6504600-6508400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:6504600-6508400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr9:6504600-6508400	Strong transcription	Left Ventricle	heart
46	chr9:6504600-6508600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr9:6504600-6508800	Strong transcription	Fetal Lung	lung
48	chr9:6504600-6508800	Strong transcription	Fetal Muscle Leg	muscle
49	chr9:6504600-6508800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:6504600-6509000	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links