Variant report

Variant	esv3428115
Chromosome Location	chr5:93798196-93800844
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	chr5:93797694..93800436-chr5:93809133..93812008,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557562434	chr5:93798200-93798201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570521743	chr5:93798204-93798205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533172243	chr5:93798210-93798211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546528367	chr5:93798219-93798220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566779174	chr5:93798230-93798231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187593405	chr5:93798250-93798251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191923841	chr5:93798252-93798253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201590524	chr5:93798285-93798286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568897984	chr5:93798291-93798292	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537526637	chr5:93798309-93798310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557858015	chr5:93798339-93798340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577321073	chr5:93798440-93798441	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182261860	chr5:93798471-93798472	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs952664	chr5:93798480-93798481	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185868855	chr5:93798519-93798520	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17379159	chr5:93798595-93798596	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs369428758	chr5:93798632-93798633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190327928	chr5:93798642-93798643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142213500	chr5:93798647-93798648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs952663	chr5:93798670-93798671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530291362	chr5:93798741-93798742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182669369	chr5:93798766-93798767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376930754	chr5:93798771-93798772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151230165	chr5:93798782-93798783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546760918	chr5:93798794-93798795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9314113	chr5:93798817-93798818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568704324	chr5:93798850-93798851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545490548	chr5:93798870-93798871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187004382	chr5:93798906-93798907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17379236	chr5:93798912-93798913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537852075	chr5:93798959-93798960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189819069	chr5:93799168-93799169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533347529	chr5:93799203-93799204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571310794	chr5:93799205-93799206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182511571	chr5:93799206-93799207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187737756	chr5:93799291-93799292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553133203	chr5:93799448-93799449	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573137718	chr5:93799514-93799515	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535717166	chr5:93799544-93799545	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555663955	chr5:93799640-93799641	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575193735	chr5:93799661-93799662	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550020170	chr5:93799665-93799666	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544601353	chr5:93799677-93799678	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564361535	chr5:93799714-93799715	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11364703	chr5:93799770-93799771	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572526984	chr5:93799789-93799790	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55863891	chr5:93799790-93799791	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201558348	chr5:93799841-93799842	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201748082	chr5:93799844-93799845	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193121637	chr5:93799896-93799897	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93775400-93808600	Weak transcription	Left Ventricle	heart
2	chr5:93776400-93811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:93780000-93799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:93795000-93798400	Strong transcription	Hela-S3	cervix
5	chr5:93795800-93819200	Weak transcription	Liver	Liver
6	chr5:93797400-93799400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:93798200-93801000	Enhancers	NHDF-Ad	bronchial
8	chr5:93798400-93798600	Genic enhancers	Hela-S3	cervix
9	chr5:93798600-93799400	Weak transcription	Hela-S3	cervix
10	chr5:93798800-93799800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:93799200-93799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:93799400-93799800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:93799400-93800000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:93799400-93800000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:93799400-93800000	Enhancers	Osteobl	bone
16	chr5:93799400-93800200	Genic enhancers	Hela-S3	cervix
17	chr5:93799600-93800000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:93799800-93800000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:93800000-93800200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:93800000-93803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:93800000-93805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:93800200-93800800	Strong transcription	Hela-S3	cervix
23	chr5:93800200-93805400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:93800200-93812200	Weak transcription	Aorta	Aorta
25	chr5:93800400-93806000	Weak transcription	Esophagus	oesophagus
26	chr5:93800800-93801000	Genic enhancers	Hela-S3	cervix
27	chr5:93800800-93801600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:93800800-93815200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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