Variant report

Variant	esv3368708
Chromosome Location	chr5:57081495-57086493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57066092..57067636-chr5:57085152..57087755,2	K562	blood:
2	chr5:57082192..57084019-chr5:57754446..57756742,2	MCF-7	breast:
3	chr5:57077135..57082051-chr5:57753020..57756988,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556352753	chr5:57081512-57081513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376073504	chr5:57081602-57081603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535630360	chr5:57081604-57081605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142018786	chr5:57081620-57081621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529052233	chr5:57081623-57081624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181983682	chr5:57081629-57081630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561827515	chr5:57081638-57081639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186213215	chr5:57081646-57081647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189905964	chr5:57081660-57081661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568661321	chr5:57081715-57081716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532989187	chr5:57081772-57081773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs386688300	chr5:57081806-57081807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182219408	chr5:57081808-57081809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533758471	chr5:57081816-57081817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555435151	chr5:57081858-57081859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187726590	chr5:57081944-57081945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547606532	chr5:57082037-57082038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146014448	chr5:57082046-57082047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542159652	chr5:57082056-57082057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373139565	chr5:57082114-57082115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2539734	chr5:57082201-57082202	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191258321	chr5:57082222-57082223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139914632	chr5:57082226-57082227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558425911	chr5:57082265-57082266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573487707	chr5:57082277-57082278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370893473	chr5:57082278-57082279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35481175	chr5:57082302-57082303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143324136	chr5:57082303-57082304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183160031	chr5:57082305-57082306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs151227401	chr5:57082325-57082326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527279860	chr5:57082331-57082332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562680704	chr5:57082334-57082335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374037611	chr5:57082387-57082388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62360076	chr5:57082408-57082409	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139181380	chr5:57082468-57082469	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149887363	chr5:57082472-57082473	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144880330	chr5:57082566-57082567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142110915	chr5:57082588-57082589	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200565258	chr5:57082602-57082603	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145860007	chr5:57082612-57082613	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531470072	chr5:57082624-57082625	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370797806	chr5:57082654-57082655	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537849665	chr5:57082722-57082723	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549894102	chr5:57082788-57082789	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571302228	chr5:57082799-57082800	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540003293	chr5:57082800-57082801	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188491740	chr5:57082833-57082834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566127770	chr5:57082841-57082842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534196822	chr5:57082905-57082906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529143243	chr5:57082936-57082937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57076400-57081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:57080800-57082400	Weak transcription	Fetal Lung	lung
3	chr5:57080800-57082400	Weak transcription	Placenta	Placenta
4	chr5:57082400-57082800	Enhancers	Fetal Lung	lung
5	chr5:57082400-57082800	Enhancers	Placenta	Placenta
6	chr5:57082800-57087600	Weak transcription	Placenta	Placenta

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