Variant report

Variant	esv3470625
Chromosome Location	chr5:106494572-106504888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17159517	chr5:106502647-106502648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568438993	chr5:106502657-106502658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569351621	chr5:106502658-106502659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59911789	chr5:106502690-106502691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536479671	chr5:106502706-106502707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75929154	chr5:106502719-106502720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572031335	chr5:106502829-106502830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56307182	chr5:106502847-106502848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557678474	chr5:106502889-106502890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577222929	chr5:106502897-106502898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185533764	chr5:106502914-106502915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562863902	chr5:106503033-106503034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35935101	chr5:106503088-106503089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12110001	chr5:106503107-106503108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576543869	chr5:106503109-106503110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7442984	chr5:106503136-106503137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542262555	chr5:106503138-106503139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147661778	chr5:106503158-106503159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529082405	chr5:106503162-106503163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527998648	chr5:106503176-106503177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148908384	chr5:106503202-106503203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564570916	chr5:106503226-106503227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533037114	chr5:106503254-106503255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549645125	chr5:106503259-106503260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569288989	chr5:106503284-106503285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535055240	chr5:106503308-106503309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189196305	chr5:106503334-106503335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12108772	chr5:106503364-106503365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192814558	chr5:106503445-106503446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576469215	chr5:106503446-106503447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548839258	chr5:106503448-106503449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78888902	chr5:106503532-106503533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184248267	chr5:106503533-106503534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188777288	chr5:106503576-106503577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576623458	chr5:106503607-106503608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181156449	chr5:106503631-106503632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555799667	chr5:106503643-106503644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553061641	chr5:106503663-106503664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574050653	chr5:106503728-106503729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572694498	chr5:106503734-106503735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6861072	chr5:106503756-106503757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564686233	chr5:106503765-106503766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142654571	chr5:106503804-106503805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6862498	chr5:106503831-106503832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563011048	chr5:106503848-106503849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113891829	chr5:106503860-106503861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528966551	chr5:106503883-106503884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186149243	chr5:106503915-106503916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150985736	chr5:106503927-106503928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565384910	chr5:106503968-106503969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106502600-106503200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:106502800-106503400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:106503400-106504200	Enhancers	Fetal Brain Female	brain
4	chr5:106503400-106505000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:106504600-106505200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:106504800-106505200	Enhancers	Fetal Heart	heart

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