Variant report

Variant	esv14699
Chromosome Location	chr4:130066164-130068470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72928002	chr4:130066204-130066205	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183624352	chr4:130066230-130066231	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562661619	chr4:130066237-130066238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561219413	chr4:130066314-130066315	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530946955	chr4:130066405-130066406	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112737247	chr4:130066408-130066409	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367890885	chr4:130066502-130066503	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371737439	chr4:130066511-130066512	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375919859	chr4:130066519-130066520	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368949128	chr4:130066524-130066525	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367840799	chr4:130066643-130066644	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs74631127	chr4:130066679-130066680	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs188330087	chr4:130066931-130066932	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143361612	chr4:130066939-130066940	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72929904	chr4:130066985-130066986	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192273951	chr4:130066991-130066992	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571750252	chr4:130067041-130067042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561614347	chr4:130067061-130067062	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372805980	chr4:130067062-130067063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs58906057	chr4:130067065-130067066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112081684	chr4:130067066-130067067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201664315	chr4:130067073-130067074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150092976	chr4:130067099-130067100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569432815	chr4:130067127-130067128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536378967	chr4:130067129-130067130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12506190	chr4:130067176-130067177	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373068719	chr4:130067185-130067186	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540251732	chr4:130067205-130067206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185003704	chr4:130067209-130067210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11098997	chr4:130067253-130067254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544484837	chr4:130067267-130067268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562587376	chr4:130067287-130067288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143526046	chr4:130067295-130067296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112195897	chr4:130067298-130067299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561068419	chr4:130067342-130067343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534561258	chr4:130067365-130067366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72929908	chr4:130067441-130067442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11730162	chr4:130067489-130067490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs189467124	chr4:130067514-130067515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537350784	chr4:130067650-130067651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147227675	chr4:130067652-130067653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551235697	chr4:130067665-130067666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557262292	chr4:130067666-130067667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569384125	chr4:130067667-130067668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397880595	chr4:130067675-130067676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536851776	chr4:130067706-130067707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182052860	chr4:130067747-130067748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139850622	chr4:130067822-130067823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533831468	chr4:130067834-130067835	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130065800-130066200	Active TSS	Adipose Nuclei	Adipose
2	chr4:130065800-130066200	Bivalent Enhancer	Left Ventricle	heart
3	chr4:130065800-130066200	Enhancers	HUVEC	blood vessel
4	chr4:130065800-130066200	Flanking Active TSS	K562	blood
5	chr4:130065800-130066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:130065800-130066800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:130066000-130066400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:130066200-130067200	Active TSS	K562	blood
9	chr4:130066400-130066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:130066400-130067000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr4:130066600-130066800	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr4:130066600-130067000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr4:130067200-130068000	Enhancers	K562	blood

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