Variant report

Variant	esv3343140
Chromosome Location	chr4:143011242-143011722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567849079	chr4:143011242-143011243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538449635	chr4:143011287-143011288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs336313	chr4:143011301-143011302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184594707	chr4:143011321-143011322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577672090	chr4:143011323-143011324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538385999	chr4:143011328-143011329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553446219	chr4:143011333-143011334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189857799	chr4:143011340-143011341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542200001	chr4:143011356-143011357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561249583	chr4:143011446-143011447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565603687	chr4:143011447-143011448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397782221	chr4:143011456-143011457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74856255	chr4:143011457-143011458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150837157	chr4:143011490-143011491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561187074	chr4:143011493-143011494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543604352	chr4:143011509-143011510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs336312	chr4:143011510-143011511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs336311	chr4:143011523-143011524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551953923	chr4:143011536-143011537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565679416	chr4:143011550-143011551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530111333	chr4:143011551-143011552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569702190	chr4:143011552-143011553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67251085	chr4:143011560-143011561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs33979683	chr4:143011561-143011562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559744928	chr4:143011562-143011563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139245396	chr4:143011571-143011572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527723555	chr4:143011653-143011654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549364687	chr4:143011663-143011664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79284209	chr4:143011696-143011697	Weak transcription Enhancers Flanking Active TSS	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:59 , 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	chr4:142966000-143013800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:142988000-143015400	Weak transcription	Aorta	Aorta
4	chr4:142988200-143029400	Weak transcription	Left Ventricle	heart
5	chr4:142990000-143051200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:142996800-143012600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:142997600-143014000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:142997800-143024600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:143001400-143040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:143002600-143041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr4:143004000-143015400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:143004000-143017000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:143004000-143021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:143004600-143051600	Weak transcription	Pancreas	Pancrea
15	chr4:143006200-143012200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:143006200-143016400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:143007000-143011600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:143007200-143012600	Weak transcription	HSMMtube	muscle
19	chr4:143007200-143012800	Weak transcription	Primary T cells from cord blood	blood
20	chr4:143007200-143014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:143007200-143015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:143007200-143016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:143007400-143025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:143007600-143014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:143007600-143024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:143007800-143013800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:143007800-143015400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr4:143008000-143012200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:143008000-143025600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:143008400-143011600	Weak transcription	HUVEC	blood vessel
31	chr4:143008400-143012400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:143008400-143014400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:143008600-143012600	Enhancers	NHDF-Ad	bronchial
34	chr4:143008600-143014000	Weak transcription	Dnd41	blood
35	chr4:143009200-143014000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:143009400-143012800	Enhancers	Hela-S3	cervix
37	chr4:143009600-143013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:143010000-143012200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:143010000-143012600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:143010000-143013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:143010000-143013000	Enhancers	Osteobl	bone
42	chr4:143010000-143014600	Enhancers	NH-A	brain
43	chr4:143010400-143012600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:143010400-143013400	Enhancers	NHEK	skin
45	chr4:143010400-143043400	Weak transcription	Psoas Muscle	Psoas
46	chr4:143010400-143057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:143010600-143011600	Weak transcription	HMEC	breast
48	chr4:143010800-143013000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:143011000-143012800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:143011000-143013000	Enhancers	NHLF	lung

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