Variant report

Variant	esv3367017
Chromosome Location	chr5:167284924-167289022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540617469	chr5:167284990-167284991	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1477284	chr5:167285008-167285009	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375616165	chr5:167285009-167285010	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537730050	chr5:167285020-167285021	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116399029	chr5:167285063-167285064	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368298055	chr5:167285107-167285108	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115350573	chr5:167285206-167285207	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572556182	chr5:167285221-167285222	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185232508	chr5:167285260-167285261	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189665530	chr5:167285264-167285265	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540782860	chr5:167285269-167285270	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560748212	chr5:167285306-167285307	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577378015	chr5:167285357-167285358	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529979596	chr5:167285390-167285391	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57599895	chr5:167285435-167285436	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562998539	chr5:167285471-167285472	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574563084	chr5:167285547-167285548	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79413977	chr5:167285561-167285562	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532375857	chr5:167285577-167285578	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545218129	chr5:167285599-167285600	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566001408	chr5:167285614-167285615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529921584	chr5:167285737-167285738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535117924	chr5:167285745-167285746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548839960	chr5:167285827-167285828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371115211	chr5:167285850-167285851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71603841	chr5:167285883-167285884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376195516	chr5:167286051-167286052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367605238	chr5:167286083-167286084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530553899	chr5:167286294-167286295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567197401	chr5:167286307-167286308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536248972	chr5:167286364-167286365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113139446	chr5:167286406-167286407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556858454	chr5:167287695-167287696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371757330	chr5:167287810-167287811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537768771	chr5:167287885-167287886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200273398	chr5:167287918-167287919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557656707	chr5:167287919-167287920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576000868	chr5:167287962-167287963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7703038	chr5:167287974-167287975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370910103	chr5:167287997-167287998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374226688	chr5:167287999-167288000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10714126	chr5:167288045-167288046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536924065	chr5:167288058-167288059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397999860	chr5:167288064-167288065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572094985	chr5:167288070-167288071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74948242	chr5:167288071-167288072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370416743	chr5:167288074-167288075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181309709	chr5:167288099-167288100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10066693	chr5:167288121-167288122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574273639	chr5:167288122-167288123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167251800-167299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167266600-167326200	Weak transcription	HMEC	breast
3	chr5:167280000-167289400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167280800-167285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:167281600-167296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:167281800-167301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:167283200-167285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167283200-167285400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167283800-167285600	Genic enhancers	NHEK	skin
10	chr5:167284400-167285600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:167285000-167285600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167285200-167285600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:167285400-167288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:167285600-167288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:167285600-167288200	Weak transcription	NHEK	skin
16	chr5:167285600-167288400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:167285600-167325600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:167288000-167288600	Enhancers	Fetal Brain Female	brain
19	chr5:167288200-167288600	Enhancers	Brain Hippocampus Middle	brain
20	chr5:167288200-167288600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:167288200-167291000	Enhancers	Brain Germinal Matrix	brain
22	chr5:167288200-167291200	Enhancers	Fetal Brain Male	brain
23	chr5:167288200-167291800	Strong transcription	NHEK	skin
24	chr5:167288200-167295000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:167288200-167296600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:167288400-167288600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:167288400-167289000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:167288400-167289000	Enhancers	Colon Smooth Muscle	Colon
29	chr5:167288400-167289800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:167288600-167288800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:167288800-167289400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:167289000-167294200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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