Variant report

Variant	esv3470004
Chromosome Location	chr5:147337958-147340569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142807000	chr5:147337997-147337998	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs67110131	chr5:147338023-147338024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112896741	chr5:147338026-147338027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71580468	chr5:147338032-147338033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397999544	chr5:147338035-147338036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74718027	chr5:147338036-147338037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67500254	chr5:147338044-147338045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71580469	chr5:147338049-147338050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531546846	chr5:147338071-147338072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75009173	chr5:147338078-147338079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543315692	chr5:147338084-147338085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376837042	chr5:147338089-147338090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397942431	chr5:147338099-147338100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200235526	chr5:147338100-147338101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373608917	chr5:147338101-147338102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71586430	chr5:147338103-147338104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59770199	chr5:147338115-147338116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568657549	chr5:147338121-147338122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561708727	chr5:147338157-147338158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529267690	chr5:147338207-147338208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547460269	chr5:147338208-147338209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566195016	chr5:147338209-147338210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533350837	chr5:147338210-147338211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192133571	chr5:147338237-147338238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371460978	chr5:147338350-147338351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201168486	chr5:147338453-147338454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202085799	chr5:147338674-147338675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200269528	chr5:147338747-147338748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374435729	chr5:147338870-147338871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551995758	chr5:147339213-147339214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201323833	chr5:147339267-147339268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62376860	chr5:147339531-147339532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570149822	chr5:147339563-147339564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537699279	chr5:147339567-147339568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556110561	chr5:147339574-147339575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184070738	chr5:147339586-147339587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568032672	chr5:147339614-147339615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535470479	chr5:147339943-147339944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553571924	chr5:147339960-147339961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572147602	chr5:147339977-147339978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35861469	chr5:147339985-147339986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71580474	chr5:147340002-147340003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575843961	chr5:147340004-147340005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543280971	chr5:147340028-147340029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376556982	chr5:147340036-147340037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199624153	chr5:147340068-147340069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529229895	chr5:147340188-147340189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541454082	chr5:147340218-147340219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6883640	chr5:147340227-147340228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373769420	chr5:147340231-147340232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:147335200-147338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:147335800-147343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:147336400-147340600	Weak transcription	Hela-S3	cervix
9	chr5:147336400-147343400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:147336400-147343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:147336600-147343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:147337400-147338000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:147337600-147338000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:147337600-147343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:147338000-147340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:147338000-147340800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:147338000-147343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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