Variant report

Variant	esv3452130
Chromosome Location	chr5:90271296-90273244
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	chr5:90270717..90274108-chr5:90274111..90277181,3	K562	blood:
2	chr5:90271284..90273506-chr5:90277558..90279978,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530857513	chr5:90271306-90271307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186051068	chr5:90271316-90271317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190814652	chr5:90271352-90271353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564210331	chr5:90271367-90271368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533274579	chr5:90271379-90271380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552329926	chr5:90271383-90271384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565773314	chr5:90271423-90271424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534909721	chr5:90271444-90271445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372661834	chr5:90271489-90271490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552881957	chr5:90271509-90271510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181083715	chr5:90271536-90271537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377294430	chr5:90271556-90271557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537005599	chr5:90271575-90271576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186580536	chr5:90271585-90271586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576984648	chr5:90271608-90271609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7733911	chr5:90271619-90271620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190645538	chr5:90271641-90271642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573396247	chr5:90271649-90271650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147036105	chr5:90271651-90271652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75304324	chr5:90271674-90271675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533511747	chr5:90271683-90271684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528422278	chr5:90271696-90271697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546697950	chr5:90271723-90271724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182934112	chr5:90271746-90271747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138419841	chr5:90271819-90271820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544174732	chr5:90271825-90271826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149585049	chr5:90271837-90271838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533239098	chr5:90271848-90271849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540413512	chr5:90271874-90271875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578057873	chr5:90271935-90271936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559497791	chr5:90271938-90271939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376187581	chr5:90271975-90271976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112924597	chr5:90272000-90272001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528228213	chr5:90272010-90272011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553754789	chr5:90272013-90272014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548375312	chr5:90272018-90272019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200164574	chr5:90272029-90272030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370259910	chr5:90272031-90272032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199752660	chr5:90272032-90272033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58853660	chr5:90272033-90272034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150711342	chr5:90272034-90272035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530848634	chr5:90272035-90272036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190825336	chr5:90272043-90272044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562177902	chr5:90272047-90272048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577182632	chr5:90272050-90272051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545050876	chr5:90272051-90272052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570495603	chr5:90272062-90272063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62374050	chr5:90272067-90272068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201360915	chr5:90272103-90272104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199981858	chr5:90272111-90272112	Weak 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90265800-90286200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:90266000-90281200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90266200-90272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:90266200-90285600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:90266600-90281000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:90266600-90290600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:90267400-90281400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:90272400-90272800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:90272400-90273200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:90273000-90273800	Enhancers	A549	lung
11	chr5:90273200-90277200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links