Variant report

Variant	esv3340703
Chromosome Location	chr4:158643396-158673727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531385559	chr4:158643408-158643409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113890058	chr4:158643447-158643448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61092344	chr4:158643496-158643497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186513510	chr4:158643497-158643498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371952101	chr4:158643504-158643505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147701089	chr4:158643520-158643521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565505358	chr4:158643565-158643566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189721523	chr4:158643665-158643666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182424973	chr4:158643678-158643679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571091190	chr4:158643742-158643743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188181791	chr4:158643777-158643778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76840320	chr4:158643819-158643820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142334943	chr4:158643829-158643830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7662753	chr4:158643852-158643853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554153998	chr4:158643859-158643860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147980600	chr4:158643863-158643864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112831069	chr4:158643924-158643925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146313221	chr4:158643932-158643933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546110364	chr4:158643941-158643942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557618736	chr4:158643992-158643993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2345337	chr4:158644016-158644017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76219641	chr4:158644036-158644037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7662831	chr4:158644054-158644055	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573416867	chr4:158644067-158644068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4324591	chr4:158644153-158644154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540741589	chr4:158644165-158644166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386681143	chr4:158644183-158644184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72690991	chr4:158644184-158644185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536455063	chr4:158644191-158644192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188185823	chr4:158644196-158644197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550912486	chr4:158648249-158648250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185711789	chr4:158648268-158648269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80311333	chr4:158648389-158648390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3937850	chr4:158648415-158648416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372178266	chr4:158648429-158648430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79494365	chr4:158648459-158648460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566928266	chr4:158648462-158648463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534320960	chr4:158648555-158648556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187449388	chr4:158648556-158648557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577357523	chr4:158648566-158648567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2087582	chr4:158648628-158648629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1074653	chr4:158648631-158648632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574692431	chr4:158648682-158648683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1074654	chr4:158648689-158648690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs373888036	chr4:158648720-158648721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375886297	chr4:158648727-158648728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527479958	chr4:158648729-158648730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140766761	chr4:158648731-158648732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531697369	chr4:158648761-158648762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531261667	chr4:158648769-158648770	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158643400-158644200	Enhancers	HMEC	breast
2	chr4:158648200-158648600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:158648200-158648800	Enhancers	Gastric	stomach
4	chr4:158648800-158649200	Weak transcription	Gastric	stomach
5	chr4:158649200-158649600	Enhancers	Gastric	stomach
6	chr4:158652600-158653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:158656800-158657600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:158657000-158657400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:158659200-158659400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:158660600-158661000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:158661000-158662600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:158662600-158663400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:158672800-158673600	Enhancers	Muscle Satellite Cultured Cells	--

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