Variant report

Variant	esv3322324
Chromosome Location	chr5:167400349-167402397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113973167	chr5:167400373-167400374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577514103	chr5:167400423-167400424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562064643	chr5:167400425-167400426	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189576007	chr5:167400431-167400432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11958655	chr5:167400453-167400454	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182268587	chr5:167400459-167400460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539953465	chr5:167400467-167400468	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547104976	chr5:167400468-167400469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566829452	chr5:167400499-167400500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186991912	chr5:167400500-167400501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140199715	chr5:167400519-167400520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575541975	chr5:167400545-167400546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2546930	chr5:167400620-167400621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115306525	chr5:167400622-167400623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575051143	chr5:167400626-167400627	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542537119	chr5:167400638-167400639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576398171	chr5:167400684-167400685	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75921427	chr5:167400697-167400698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560268962	chr5:167400725-167400726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150870905	chr5:167400726-167400727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572144884	chr5:167400730-167400731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11955678	chr5:167400741-167400742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35646638	chr5:167400820-167400821	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202216396	chr5:167400894-167400895	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192327367	chr5:167400921-167400922	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183399344	chr5:167400952-167400953	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188844033	chr5:167400956-167400957	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75858621	chr5:167400972-167400973	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78300591	chr5:167400978-167400979	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564356168	chr5:167400981-167400982	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9885191	chr5:167400982-167400983	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201016330	chr5:167401012-167401013	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561989225	chr5:167401026-167401027	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566994843	chr5:167401027-167401028	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145247884	chr5:167401030-167401031	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117532211	chr5:167401031-167401032	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374103692	chr5:167401038-167401039	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374471479	chr5:167401041-167401042	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371175253	chr5:167401072-167401073	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374921752	chr5:167401086-167401087	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113892651	chr5:167401087-167401088	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62383374	chr5:167401109-167401110	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201681728	chr5:167401125-167401126	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377749777	chr5:167401138-167401139	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191707690	chr5:167401182-167401183	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141810936	chr5:167401230-167401231	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111217386	chr5:167401235-167401236	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199987092	chr5:167401238-167401239	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372074884	chr5:167401240-167401241	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182802088	chr5:167401279-167401280	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167385800-167407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:167387800-167400600	Weak transcription	Right Atrium	heart
3	chr5:167388200-167407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167391600-167410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:167395200-167406800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167395800-167400800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:167396200-167407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:167396400-167401600	Weak transcription	NHEK	skin
9	chr5:167397000-167400400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:167397000-167407800	Weak transcription	Left Ventricle	heart
11	chr5:167397200-167400400	Weak transcription	Right Ventricle	heart
12	chr5:167397200-167420800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:167399800-167400600	Enhancers	Fetal Lung	lung
14	chr5:167399800-167400800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:167400200-167405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:167400400-167400800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:167400400-167400800	Enhancers	Right Ventricle	heart
18	chr5:167400600-167400800	Enhancers	Right Atrium	heart
19	chr5:167400800-167401200	Weak transcription	Right Atrium	heart
20	chr5:167400800-167401800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:167400800-167402400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:167400800-167409400	Weak transcription	Right Ventricle	heart
23	chr5:167401600-167402200	Enhancers	Esophagus	oesophagus
24	chr5:167401600-167402200	Enhancers	NHEK	skin
25	chr5:167401800-167402400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:167402200-167407200	Weak transcription	NHEK	skin

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