Variant report

Variant	esv2760872
Chromosome Location	chr4:85054481-85066641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147661797	chr4:85057068-85057069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549609573	chr4:85057104-85057105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs17008168	chr4:85057124-85057125	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142365398	chr4:85057133-85057134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146532033	chr4:85057196-85057197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185259496	chr4:85057205-85057206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188435599	chr4:85057238-85057239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113536954	chr4:85057252-85057253	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs80211907	chr4:85057263-85057264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181909770	chr4:85057282-85057283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565408733	chr4:85057287-85057288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577478407	chr4:85057300-85057301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76873199	chr4:85057331-85057332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12649011	chr4:85057345-85057346	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578174722	chr4:85057361-85057362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145102987	chr4:85057418-85057419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527376251	chr4:85057462-85057463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376652341	chr4:85057489-85057490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548704198	chr4:85057508-85057509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548179877	chr4:85057583-85057584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191722531	chr4:85066422-85066423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10034365	chr4:85066431-85066432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556221411	chr4:85066435-85066436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535015907	chr4:85066457-85066458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183425454	chr4:85066466-85066467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11933688	chr4:85066543-85066544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs187998073	chr4:85066577-85066578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142248597	chr4:85066591-85066592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576063473	chr4:85066618-85066619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543394194	chr4:85066628-85066629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10516709	chr4:85066641-85066642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85057000-85057600	Active TSS	Aorta	Aorta
2	chr4:85066400-85066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:85066400-85067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:85066400-85068000	Enhancers	Adipose Nuclei	Adipose

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