Variant report

Variant	esv18629
Chromosome Location	chr5:150954478-150955343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189913179	chr5:150954481-150954482	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35568803	chr5:150954487-150954488	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs67077732	chr5:150954488-150954489	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7730502	chr5:150954489-150954490	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34594701	chr5:150954490-150954491	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568317249	chr5:150954509-150954510	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576689838	chr5:150954574-150954575	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7710596	chr5:150954587-150954588	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4958460	chr5:150954648-150954649	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs528850186	chr5:150954652-150954653	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554654575	chr5:150954706-150954707	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142013768	chr5:150954713-150954714	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35237736	chr5:150954820-150954821	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116591249	chr5:150954831-150954832	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73273970	chr5:150954836-150954837	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145893222	chr5:150954874-150954875	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4416593	chr5:150954886-150954887	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4416594	chr5:150954941-150954942	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114653726	chr5:150954952-150954953	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115201368	chr5:150954958-150954959	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535825880	chr5:150954967-150954968	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4452546	chr5:150954975-150954976	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566667852	chr5:150955003-150955004	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543382864	chr5:150955074-150955075	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566059090	chr5:150955082-150955083	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375731517	chr5:150955101-150955102	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138791935	chr5:150955102-150955103	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4416595	chr5:150955127-150955128	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4314387	chr5:150955141-150955142	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140281857	chr5:150955145-150955146	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4376256	chr5:150955163-150955164	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560043869	chr5:150955225-150955226	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11746958	chr5:150955242-150955243	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184116169	chr5:150955281-150955282	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13167092	chr5:150955282-150955283	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559272546	chr5:150955305-150955306	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11750312	chr5:150955332-150955333	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545044441	chr5:150955341-150955342	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic lymphocytic leukemia	21546498	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
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150951200-150960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:150951400-150959600	Weak transcription	Placenta	Placenta
3	chr5:150951600-150955800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:150951600-150956400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:150951600-150960400	Genic enhancers	NHEK	skin
6	chr5:150952000-150955800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:150952600-150957000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:150953400-150956000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:150953600-150955400	Genic enhancers	HMEC	breast
10	chr5:150953600-150955600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:150953600-150956800	Weak transcription	Fetal Thymus	thymus
12	chr5:150954000-150959600	Weak transcription	Esophagus	oesophagus

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