Variant report

Variant	esv3440932
Chromosome Location	chr5:57656620-57659168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57656384..57658346-chr5:57754489..57756599,3	MCF-7	breast:
2	chr5:57657859..57660556-chr5:57662293..57664197,2	K562	blood:
3	chr5:57654875..57656894-chr5:57657997..57659625,2	MCF-7	breast:
4	chr5:57654875..57656894-chr5:57657997..57659625,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577792209	chr5:57656700-57656701	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546881873	chr5:57656703-57656704	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568500991	chr5:57656752-57656753	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535574756	chr5:57656753-57656754	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187027713	chr5:57656812-57656813	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569258463	chr5:57656833-57656834	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548133812	chr5:57656835-57656836	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558053929	chr5:57656866-57656867	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573175590	chr5:57656873-57656874	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116773593	chr5:57656893-57656894	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377661033	chr5:57656899-57656900	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538773795	chr5:57656915-57656916	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs27937	chr5:57656962-57656963	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs575316474	chr5:57656986-57656987	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79139982	chr5:57656987-57656988	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543951886	chr5:57657003-57657004	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562279794	chr5:57657031-57657032	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577183900	chr5:57657037-57657038	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544627016	chr5:57657114-57657115	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564392245	chr5:57657117-57657118	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28017	chr5:57657120-57657121	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190217371	chr5:57657166-57657167	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562120342	chr5:57657199-57657200	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143373247	chr5:57657203-57657204	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182848100	chr5:57657242-57657243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541020362	chr5:57657243-57657244	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569393441	chr5:57657269-57657270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62366345	chr5:57657391-57657392	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551806246	chr5:57657518-57657519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374281266	chr5:57657545-57657546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs80087579	chr5:57657563-57657564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566910036	chr5:57657571-57657572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533844257	chr5:57657593-57657594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555664972	chr5:57657644-57657645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs112661418	chr5:57657671-57657672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566458807	chr5:57657679-57657680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76830721	chr5:57657680-57657681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368960620	chr5:57657686-57657687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192742778	chr5:57657687-57657688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs26976	chr5:57657705-57657706	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553343867	chr5:57657711-57657712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185434099	chr5:57657742-57657743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540553660	chr5:57657743-57657744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368180779	chr5:57657748-57657749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13157057	chr5:57657757-57657758	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529437345	chr5:57657796-57657797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189057697	chr5:57657797-57657798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371693470	chr5:57657804-57657805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6864929	chr5:57657812-57657813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201193682	chr5:57657818-57657819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57655800-57656800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:57655800-57657200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:57656000-57656800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:57656000-57657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:57656400-57657000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:57656400-57657000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:57656400-57657000	Enhancers	Fetal Heart	heart
8	chr5:57656600-57657000	Enhancers	Left Ventricle	heart
9	chr5:57656600-57657200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:57656600-57657400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:57656800-57657200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:57657000-57657400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:57657000-57661600	Weak transcription	Fetal Heart	heart
14	chr5:57657200-57657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:57658400-57658600	Weak transcription	Adipose Nuclei	Adipose
16	chr5:57658600-57658800	Enhancers	Adipose Nuclei	Adipose
17	chr5:57658800-57662400	Weak transcription	Adipose Nuclei	Adipose

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