Variant report

Variant	nsv934195
Chromosome Location	chr5:89979353-89979731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89973316..89976811-chr5:89977815..89981018,4	K562	blood:
2	chr5:89978778..89980888-chr5:89986254..89988154,2	MCF-7	breast:
3	chr5:89898813..89900369-chr5:89978096..89979989,2	K562	blood:
4	chr5:89938091..89940489-chr5:89979242..89981079,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4916683	chr5:89979380-89979381	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201771946	chr5:89979407-89979408	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200965928	chr5:89979478-89979479	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35791889	chr5:89979485-89979486	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17544552	chr5:89979518-89979519	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199605700	chr5:89979522-89979523	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs41311335	chr5:89979523-89979524	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369026723	chr5:89979532-89979533	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576449067	chr5:89979547-89979548	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375933469	chr5:89979552-89979553	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs41302834	chr5:89979568-89979569	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569899625	chr5:89979573-89979574	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4916684	chr5:89979589-89979590	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192897573	chr5:89979592-89979593	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs367830759	chr5:89979612-89979613	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201983595	chr5:89979630-89979631	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374666351	chr5:89979640-89979641	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs41303352	chr5:89979691-89979692	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4916685	chr5:89979698-89979699	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs376559614	chr5:89979707-89979708	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs545943476	chr5:89979720-89979721	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89936800-89994200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:89950200-89981600	Weak transcription	Fetal Brain Female	brain
3	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:89964400-89993400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:89964600-89994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:89965000-89993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:89967200-89992000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:89968000-89980400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:89968000-89982000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:89968400-89982000	Strong transcription	K562	blood
11	chr5:89968600-89982000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89968600-89982000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:89971800-89979400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:89972000-89985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:89976600-89982000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:89977400-89982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:89978000-89979800	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr5:89978000-89980400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:89978000-89980600	Active TSS	Brain Cingulate Gyrus	brain
20	chr5:89978000-89982000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:89978400-89982000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:89978600-89979400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:89979000-89982000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:89979000-89982000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:89979200-90002600	Weak transcription	Brain Anterior Caudate	brain
26	chr5:89979400-89981800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:89979400-89982000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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