Variant report

Variant	esv3329361
Chromosome Location	chr5:49598845-49603343
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	chr5:49597764..49600386-chr5:49604629..49608751,3	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs370916211	chr5:49598855-49598856	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs576955584	chr5:49598864-49598865	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188351882	chr5:49598896-49598897	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545863940	chr5:49598907-49598908	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10051529	chr5:49598937-49598938	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs576661540	chr5:49598943-49598944	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115730150	chr5:49598949-49598950	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562223973	chr5:49598960-49598961	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564055270	chr5:49599009-49599010	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527904306	chr5:49599010-49599011	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541098514	chr5:49599021-49599022	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564148094	chr5:49599023-49599024	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533082118	chr5:49599025-49599026	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549500213	chr5:49599049-49599050	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563341113	chr5:49599050-49599051	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529126574	chr5:49599064-49599065	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367632383	chr5:49599105-49599106	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4865521	chr5:49599109-49599110	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs565512552	chr5:49599110-49599111	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534490321	chr5:49599164-49599165	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4865698	chr5:49599166-49599167	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs4865699	chr5:49599181-49599182	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs571284436	chr5:49599212-49599213	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs182277113	chr5:49599216-49599217	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs556239598	chr5:49599239-49599240	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546733383	chr5:49599243-49599244	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141084509	chr5:49599265-49599266	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187193382	chr5:49599274-49599275	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535560279	chr5:49599332-49599333	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371754533	chr5:49599341-49599342	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572805166	chr5:49599350-49599351	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541620780	chr5:49599352-49599353	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs150279367	chr5:49599379-49599380	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577659062	chr5:49599395-49599396	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543506124	chr5:49599400-49599401	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs563094381	chr5:49599402-49599403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190081679	chr5:49599408-49599409	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145806914	chr5:49599409-49599410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559209716	chr5:49599411-49599412	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148992787	chr5:49599433-49599434	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547549405	chr5:49599450-49599451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35257682	chr5:49599454-49599455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551160062	chr5:49599455-49599456	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539467725	chr5:49599473-49599474	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557461921	chr5:49599476-49599477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs116210191	chr5:49599498-49599499	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs4865522	chr5:49599508-49599509	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs550264642	chr5:49599511-49599512	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147088473	chr5:49599514-49599515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs138700205	chr5:49599524-49599525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49596400-49599400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:49596400-49599400	Enhancers	HMEC	breast
3	chr5:49596600-49599800	Enhancers	NHEK	skin
4	chr5:49598200-49599400	Enhancers	Osteobl	bone
5	chr5:49598200-49599600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:49598400-49599000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:49598600-49599000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:49598600-49599400	Enhancers	HSMM	muscle
9	chr5:49598800-49599200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:49598800-49599400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:49598800-49599400	Active TSS	A549	lung
12	chr5:49599000-49599200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:49599200-49599400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:49599200-49599600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:49599400-49600200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:49602400-49602600	Enhancers	Dnd41	blood
17	chr5:49602600-49615800	Weak transcription	Dnd41	blood

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