Variant report

Variant	esv3339490
Chromosome Location	chr5:57696210-57697363
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	chr5:57695137..57697573-chr5:57699382..57701750,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573627993	chr5:57696268-57696269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386688340	chr5:57696278-57696279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10940611	chr5:57696279-57696280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577629027	chr5:57696299-57696300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544783988	chr5:57696300-57696301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs702598	chr5:57696339-57696340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs41383346	chr5:57696396-57696397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572084277	chr5:57696399-57696400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542675865	chr5:57696404-57696405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146012119	chr5:57696425-57696426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566914826	chr5:57696446-57696447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551144416	chr5:57696460-57696461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs889303	chr5:57696464-57696465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533417202	chr5:57696477-57696478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557760235	chr5:57696490-57696491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551475857	chr5:57696499-57696500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576039217	chr5:57696550-57696551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183162725	chr5:57696586-57696587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188001950	chr5:57696620-57696621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555522457	chr5:57696628-57696629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549013854	chr5:57696710-57696711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567544625	chr5:57696720-57696721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149700241	chr5:57696760-57696761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556280239	chr5:57696784-57696785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571377596	chr5:57696812-57696813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538690133	chr5:57696814-57696815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553885040	chr5:57696820-57696821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573833036	chr5:57696827-57696828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112298357	chr5:57696841-57696842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572198212	chr5:57696851-57696852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558574542	chr5:57696861-57696862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542639150	chr5:57696903-57696904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191271106	chr5:57696905-57696906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541268185	chr5:57696965-57696966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574233046	chr5:57697086-57697087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544582177	chr5:57697121-57697122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563070274	chr5:57697144-57697145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77944636	chr5:57697170-57697171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533348530	chr5:57697181-57697182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7707686	chr5:57697206-57697207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559682575	chr5:57697219-57697220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374349967	chr5:57697230-57697231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560211406	chr5:57697244-57697245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11739229	chr5:57697254-57697255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs548927862	chr5:57697279-57697280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183759382	chr5:57697293-57697294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531608997	chr5:57697307-57697308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545863734	chr5:57697332-57697333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186980062	chr5:57697333-57697334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571549390	chr5:57697339-57697340	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57695600-57701400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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