Variant report

Variant	esv3410529
Chromosome Location	chr5:90002199-90002650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89996062..89999170-chr5:90000730..90003176,4	K562	blood:
2	chr5:89992042..89994832-chr5:90000512..90002853,2	K562	blood:
3	chr5:89992042..89994832-chr5:90000512..90002853,3	K562	blood:
4	chr5:89998991..90003482-chr5:90003758..90009177,7	K562	blood:
5	chr5:90001172..90003183-chr5:90006013..90008402,2	K562	blood:
6	chr5:90001746..90003482-chr5:90003758..90005802,2	K562	blood:
7	chr5:89996062..89998352-chr5:90001342..90003176,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201700155	chr5:90002218-90002219	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60522638	chr5:90002220-90002221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377585302	chr5:90002221-90002222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200034423	chr5:90002222-90002223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397817530	chr5:90002232-90002233	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113956567	chr5:90002233-90002234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534068361	chr5:90002237-90002238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552710412	chr5:90002244-90002245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572997748	chr5:90002275-90002276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77614337	chr5:90002293-90002294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542572668	chr5:90002302-90002303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575483533	chr5:90002332-90002333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544204326	chr5:90002361-90002362	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192841233	chr5:90002392-90002393	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116639453	chr5:90002398-90002399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546725915	chr5:90002413-90002414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560432116	chr5:90002414-90002415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60796101	chr5:90002428-90002429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562383171	chr5:90002455-90002456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74488161	chr5:90002519-90002520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59122560	chr5:90002548-90002549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80332013	chr5:90002562-90002563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78907766	chr5:90002564-90002565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569515056	chr5:90002565-90002566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572161257	chr5:90002572-90002573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1996551	chr5:90002596-90002597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571317453	chr5:90002610-90002611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114944019	chr5:90002627-90002628	Weak transcription Strong transcription	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:89979200-90002600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:89982000-90004600	Weak transcription	Fetal Brain Female	brain
4	chr5:89987800-90007200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:89995000-90025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:89997800-90017600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:89998800-90018000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:89999200-90002200	Strong transcription	K562	blood
10	chr5:89999600-90010000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:89999800-90004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:90001200-90002200	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr5:90001200-90002400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr5:90001600-90002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:90001600-90002200	Strong transcription	Brain Germinal Matrix	brain
16	chr5:90001800-90006000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:90002000-90005600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:90002200-90002800	Weak transcription	K562	blood
19	chr5:90002200-90012200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:90002200-90022000	Weak transcription	Brain Germinal Matrix	brain
21	chr5:90002200-90023200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:90002400-90005600	Weak transcription	H1 Cell Line	embryonic stem cell

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