Variant report

Variant	esv3433059
Chromosome Location	chr5:167764298-167764802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167761098..167764213-chr5:167764568..167768008,3	MCF-7	breast:
2	chr5:167762254..167764626-chr5:167768506..167771343,2	K562	blood:
3	chr5:167764731..167766701-chr5:167770057..167771582,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143938744	chr5:167764311-167764312	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182478219	chr5:167764319-167764320	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185734273	chr5:167764326-167764327	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540588161	chr5:167764344-167764345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144005327	chr5:167764354-167764355	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368706633	chr5:167764355-167764356	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386405609	chr5:167764356-167764357	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111424513	chr5:167764357-167764358	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201691280	chr5:167764373-167764374	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560309190	chr5:167764380-167764381	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529545385	chr5:167764384-167764385	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58545200	chr5:167764388-167764389	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189076766	chr5:167764396-167764397	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531942096	chr5:167764397-167764398	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200323507	chr5:167764403-167764404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76770955	chr5:167764415-167764416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575349683	chr5:167764450-167764451	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573424671	chr5:167764467-167764468	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533079298	chr5:167764472-167764473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56935130	chr5:167764499-167764500	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566352098	chr5:167764540-167764541	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535472392	chr5:167764554-167764555	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72828874	chr5:167764577-167764578	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17731499	chr5:167764600-167764601	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537633949	chr5:167764633-167764634	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557547568	chr5:167764641-167764642	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386694701	chr5:167764691-167764692	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111538521	chr5:167764692-167764693	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13155901	chr5:167764693-167764694	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554096797	chr5:167764717-167764718	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573944383	chr5:167764741-167764742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145689885	chr5:167764742-167764743	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537777451	chr5:167764798-167764799	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Epilepsy	20502679	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167752600-167773000	Weak transcription	Esophagus	oesophagus
2	chr5:167756200-167773000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:167757200-167775200	Weak transcription	Liver	Liver
4	chr5:167757600-167767400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:167758200-167772800	Weak transcription	Fetal Intestine Large	intestine
6	chr5:167758600-167768000	Weak transcription	Gastric	stomach
7	chr5:167759600-167767600	Weak transcription	NHEK	skin
8	chr5:167760000-167764800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:167761600-167768400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:167761800-167765000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:167761800-167765600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167761800-167766000	Weak transcription	Fetal Lung	lung
13	chr5:167761800-167768000	Weak transcription	NHDF-Ad	bronchial
14	chr5:167761800-167772400	Weak transcription	Fetal Kidney	kidney
15	chr5:167762000-167766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:167762000-167767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:167762200-167766200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:167762200-167769200	Weak transcription	Fetal Stomach	stomach
19	chr5:167762200-167791800	Weak transcription	Hela-S3	cervix
20	chr5:167762400-167767800	Weak transcription	HMEC	breast
21	chr5:167762400-167769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:167762400-167771400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:167762400-167773000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:167762400-167773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:167762800-167764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:167762800-167766000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:167762800-167766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:167762800-167770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:167763000-167765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:167763000-167765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:167763000-167766200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:167763000-167768600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:167763000-167768800	Weak transcription	Pancreas	Pancrea
34	chr5:167763000-167769000	Weak transcription	Brain Anterior Caudate	brain
35	chr5:167763000-167771000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:167763200-167765600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:167763200-167766200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:167763200-167766200	Weak transcription	Placenta	Placenta
39	chr5:167763800-167765000	Genic enhancers	A549	lung
40	chr5:167764000-167765000	Enhancers	HepG2	liver
41	chr5:167764400-167764600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:167764400-167764800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:167764600-167780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:167764800-167766000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:167764800-167766200	Weak transcription	H1 Cell Line	embryonic stem cell

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