Variant report

Variant	esv3468281
Chromosome Location	chr4:142985184-142987548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553213076	chr4:142985210-142985211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568405896	chr4:142985241-142985242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28409209	chr4:142985249-142985250	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557111562	chr4:142985287-142985288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28662238	chr4:142985298-142985299	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545849027	chr4:142985414-142985415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557490641	chr4:142985441-142985442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572749909	chr4:142985456-142985457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540541970	chr4:142985488-142985489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189516669	chr4:142985552-142985553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562097568	chr4:142985571-142985572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544444339	chr4:142985587-142985588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562684257	chr4:142985611-142985612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116555095	chr4:142985624-142985625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552596510	chr4:142985640-142985641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570768191	chr4:142985663-142985664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528509014	chr4:142985671-142985672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571871721	chr4:142985681-142985682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200347720	chr4:142985682-142985683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550037852	chr4:142985683-142985684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79627157	chr4:142985691-142985692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181370738	chr4:142985698-142985699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557288360	chr4:142985704-142985705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72940949	chr4:142985719-142985720	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138144459	chr4:142985757-142985758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28586943	chr4:142985777-142985778	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373956067	chr4:142985796-142985797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116759800	chr4:142985821-142985822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540276469	chr4:142985823-142985824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75281322	chr4:142985842-142985843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28534072	chr4:142985848-142985849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544493311	chr4:142985850-142985851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562547710	chr4:142985879-142985880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533110130	chr4:142985930-142985931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544869379	chr4:142985933-142985934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13135658	chr4:142985974-142985975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13103244	chr4:142985979-142985980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564651187	chr4:142986027-142986028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571230142	chr4:142986036-142986037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs336377	chr4:142986050-142986051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546623429	chr4:142986069-142986070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185791871	chr4:142986114-142986115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs336376	chr4:142986133-142986134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551208970	chr4:142986176-142986177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539521755	chr4:142986188-142986189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189713672	chr4:142986203-142986204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540064219	chr4:142986340-142986341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36228246	chr4:142986388-142986389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3222039	chr4:142986389-142986390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs70949152	chr4:142986413-142986414	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:142959200-142995600	Weak transcription	Fetal Heart	heart
3	chr4:142961800-143009600	Weak transcription	A549	lung
4	chr4:142962200-143002200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:142963400-143001000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr4:142963400-143002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:142966000-142987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:142966000-142987600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:142966000-143010000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:142974600-142987600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:142977400-142987400	Weak transcription	HSMMtube	muscle
13	chr4:142977400-142987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:142977400-142987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:142977600-142986200	Weak transcription	NHDF-Ad	bronchial
16	chr4:142978000-142986600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:142978000-142994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:142978000-143002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:142978200-142986600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:142978200-142986800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:142978200-142987000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:142978200-142987600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:142978200-142987600	Weak transcription	HSMM	muscle
24	chr4:142978200-142997400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:142978200-143001400	Weak transcription	Dnd41	blood
26	chr4:142978200-143006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:142978800-142988800	Weak transcription	NHEK	skin
28	chr4:142979200-142994600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:142982600-142986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:142983400-142985800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:142983600-142987400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:142983600-142987600	Weak transcription	Left Ventricle	heart
33	chr4:142983800-142987600	Weak transcription	Aorta	Aorta
34	chr4:142984400-142985800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:142984400-142987800	Weak transcription	Osteobl	bone
36	chr4:142984600-142986400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:142984600-142987400	Weak transcription	Primary T cells from cord blood	blood
38	chr4:142984600-142995400	Weak transcription	HMEC	breast
39	chr4:142984800-142987400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:142985800-142987400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:142985800-143011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:142986400-142988000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:142986600-142987200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:142986600-142989200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr4:142986800-142988400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:142986800-142988400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:142987000-142987600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:142987000-142988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:142987200-142989200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:142987400-142987800	Enhancers	Primary T helper cells PMA-I stimulated	--

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