Variant report

Variant	esv3442013
Chromosome Location	chr5:100063078-100065626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:100064710-100064840	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:100065300-100065507	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100032298..100033924-chr5:100061965..100063557,2	K562	blood:
2	chr5:100056227..100057850-chr5:100061884..100063603,2	K562	blood:

Variant related genes	Relation type
RN7SKP62	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200327200	chr5:100064024-100064025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143650985	chr5:100064088-100064089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183034212	chr5:100064112-100064113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111217345	chr5:100064139-100064140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111217469	chr5:100064233-100064234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543840857	chr5:100064286-100064287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562043100	chr5:100064324-100064325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111217558	chr5:100064345-100064346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36040118	chr5:100064355-100064356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529496954	chr5:100064463-100064464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34014464	chr5:100064541-100064542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11413159	chr5:100064542-100064543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201300794	chr5:100064551-100064552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185891526	chr5:100064561-100064562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190860747	chr5:100064607-100064608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533595400	chr5:100064618-100064619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551165481	chr5:100064658-100064659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569763580	chr5:100064667-100064668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373295821	chr5:100064695-100064696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183263699	chr5:100064720-100064721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79829592	chr5:100064722-100064723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs187830113	chr5:100064741-100064742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs553328523	chr5:100064756-100064757	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35127859	chr5:100064760-100064761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs72776666	chr5:100064805-100064806	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139628166	chr5:100064806-100064807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs199663536	chr5:100064876-100064877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78843193	chr5:100064885-100064886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539781255	chr5:100064897-100064898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374420995	chr5:100064958-100064959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576528186	chr5:100064986-100064987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541737338	chr5:100065021-100065022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552032820	chr5:100065053-100065054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543515305	chr5:100065058-100065059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149664470	chr5:100065120-100065121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144467532	chr5:100065160-100065161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541296787	chr5:100065161-100065162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57652761	chr5:100065162-100065163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74807517	chr5:100065169-100065170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192604567	chr5:100065199-100065200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144064161	chr5:100065257-100065258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74618134	chr5:100065296-100065297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67994999	chr5:100065318-100065319	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs199796501	chr5:100065329-100065330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567245164	chr5:100065373-100065374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528124066	chr5:100065382-100065383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs183004577	chr5:100065407-100065408	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs146459158	chr5:100065439-100065440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs79441967	chr5:100065459-100065460	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs557072438	chr5:100065498-100065499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	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
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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100064000-100066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:100065000-100065200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:100065000-100065200	Enhancers	Dnd41	blood
4	chr5:100065200-100066000	Weak transcription	Dnd41	blood

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