Variant report

Variant	nsv397049
Chromosome Location	chr8:62034331-62035128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61786507..61789220-chr8:62034568..62037339,2	K562	blood:
2	chr5:53619296..53622217-chr8:62032512..62034545,2	K562	blood:
3	chr8:62034871..62036799-chr8:62043503..62045064,2	K562	blood:
4	chr8:62034256..62037126-chr8:62040343..62042185,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530097134	chr8:62034340-62034341	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143750678	chr8:62034356-62034357	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548611757	chr8:62034359-62034360	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570118250	chr8:62034360-62034361	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537566397	chr8:62034373-62034374	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556361527	chr8:62034386-62034387	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188619474	chr8:62034402-62034403	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111702824	chr8:62034410-62034411	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542268268	chr8:62034423-62034424	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553058581	chr8:62034450-62034451	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573022910	chr8:62034471-62034472	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554029125	chr8:62034493-62034494	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575714788	chr8:62034500-62034501	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145747745	chr8:62034509-62034510	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554145109	chr8:62034560-62034561	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575703571	chr8:62034568-62034569	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543128029	chr8:62034585-62034586	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182099603	chr8:62034586-62034587	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369322531	chr8:62034627-62034628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72654639	chr8:62034652-62034653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564703627	chr8:62034658-62034659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533644028	chr8:62034857-62034858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559955437	chr8:62034865-62034866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190710300	chr8:62034872-62034873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548574979	chr8:62034883-62034884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563690726	chr8:62034890-62034891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530964697	chr8:62034894-62034895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552684928	chr8:62034912-62034913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570906831	chr8:62035005-62035006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16926875	chr8:62035024-62035025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7002787	chr8:62035032-62035033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552145755	chr8:62035058-62035059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536160693	chr8:62035086-62035087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73685733	chr8:62035099-62035100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369559694	chr8:62035125-62035126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373476014	chr8:62035128-62035129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62034000-62034400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr8:62034000-62034400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:62034000-62034400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:62034000-62034400	Flanking Active TSS	K562	blood
5	chr8:62034000-62034600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:62034000-62034800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:62034000-62035000	Enhancers	Fetal Brain Female	brain
8	chr8:62034000-62035200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:62034000-62037000	Enhancers	GM12878-XiMat	blood
10	chr8:62034200-62034400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:62034200-62034400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:62034200-62034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:62034200-62034600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:62034200-62034600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:62034200-62034800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:62034200-62035000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:62034200-62035600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:62034400-62034800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:62034400-62035000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:62034400-62035400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:62034400-62051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:62034600-62034800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:62034600-62035000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:62035000-62035200	Enhancers	HepG2	liver
25	chr8:62035000-62035400	Enhancers	Fetal Brain Male	brain
26	chr8:62035000-62036200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links