Variant report

Variant	esv3469634
Chromosome Location	chr5:101277914-101279283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101277581..101278499-chr5:101426192..101427059,2	MCF-7	breast:
2	chr5:101277790..101278635-chr5:101488732..101489585,4	MCF-7	breast:
3	chr5:101277636..101278379-chr5:101489093..101489664,2	MCF-7	breast:
4	chr5:101277703..101278961-chr5:101426537..101427100,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549197821	chr5:101277938-101277939	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9327708	chr5:101277994-101277995	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72772479	chr5:101278005-101278006	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73774709	chr5:101278028-101278029	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184066995	chr5:101278029-101278030	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538658911	chr5:101278030-101278031	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569640286	chr5:101278071-101278072	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561173639	chr5:101278073-101278074	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550917831	chr5:101278087-101278088	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370253678	chr5:101278089-101278090	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569408958	chr5:101278104-101278105	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116608195	chr5:101278123-101278124	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530585725	chr5:101278131-101278132	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10479094	chr5:101278162-101278163	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533950388	chr5:101278163-101278164	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141142573	chr5:101278195-101278196	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577041279	chr5:101278229-101278230	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150749657	chr5:101278253-101278254	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562125249	chr5:101278387-101278388	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574218402	chr5:101278414-101278415	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568280770	chr5:101278478-101278479	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541520733	chr5:101278549-101278550	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533751450	chr5:101278599-101278600	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528688063	chr5:101278601-101278602	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373764173	chr5:101278617-101278618	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570631809	chr5:101278647-101278648	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540774023	chr5:101278711-101278712	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542514336	chr5:101278746-101278747	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116390335	chr5:101278840-101278841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532826641	chr5:101278873-101278874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6895076	chr5:101278887-101278888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569272976	chr5:101278916-101278917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530260064	chr5:101278937-101278938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548713056	chr5:101278953-101278954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566912668	chr5:101278954-101278955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374662624	chr5:101278975-101278976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186531726	chr5:101279051-101279052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111526125	chr5:101279064-101279065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192453414	chr5:101279104-101279105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185591342	chr5:101279110-101279111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555785140	chr5:101279111-101279112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141778874	chr5:101279112-101279113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574083917	chr5:101279238-101279239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101277600-101279000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:101277800-101278200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:101277800-101278600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:101278000-101278200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:101278000-101278400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:101278000-101278600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:101278000-101280000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:101278200-101278400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr5:101278200-101278400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:101278200-101278400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:101278200-101278600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:101278200-101278600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:101278200-101278600	Enhancers	Fetal Intestine Large	intestine
14	chr5:101278200-101278800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:101278200-101278800	Enhancers	HepG2	liver
16	chr5:101278200-101279800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:101278200-101279800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:101278400-101278600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:101278400-101278800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr5:101278400-101278800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:101278400-101278800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:101278400-101278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:101278400-101280000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:101278400-101280000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:101278600-101279600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:101278600-101279800	Weak transcription	Fetal Intestine Large	intestine
27	chr5:101278600-101280200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:101278800-101279800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:101279000-101279400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:101279200-101280200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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