Variant report

Variant	nsv428775
Chromosome Location	chr4:142943213-143050195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:
2	chr4:142950691..142953607-chr4:142965020..142967110,2	MCF-7	breast:
3	chr4:143018754..143020846-chr4:143024197..143025698,2	MCF-7	breast:
4	chr4:142961970..142965946-chr4:142968550..142971585,4	MCF-7	breast:
5	chr4:142951947..142953584-chr4:142957347..142959849,2	MCF-7	breast:
6	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:
7	chr4:143020271..143023015-chr4:143028673..143031244,3	MCF-7	breast:
8	chr4:142942418..142944888-chr4:142957295..142959081,2	MCF-7	breast:
9	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:
10	chr4:143048538..143050644-chr4:143051888..143053940,2	MCF-7	breast:
11	chr4:143020271..143023015-chr4:143028673..143031244,3	MCF-7	breast:
12	chr4:143018754..143020846-chr4:143024197..143025698,2	MCF-7	breast:
13	chr4:142946395..142950633-chr4:142951002..142956006,4	MCF-7	breast:
14	chr4:142946395..142950633-chr4:142951002..142956006,4	MCF-7	breast:
15	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:
16	chr4:142951947..142953584-chr4:142957347..142959849,2	MCF-7	breast:
17	chr4:142993302..142997726-chr4:142999331..143002418,4	MCF-7	breast:
18	chr4:142993302..142997726-chr4:142999331..143002418,4	MCF-7	breast:
19	chr4:142942418..142944888-chr4:142957295..142959081,2	MCF-7	breast:
20	chr4:143023344..143025371-chr4:143034137..143035895,2	MCF-7	breast:
21	chr4:143023344..143025371-chr4:143034137..143035895,2	MCF-7	breast:
22	chr4:142781808..142782795-chr4:143048083..143048829,2	MCF-7	breast:
23	chr4:142950691..142953607-chr4:142965020..142967110,2	MCF-7	breast:
24	chr4:142961970..142965946-chr4:142968550..142971585,4	MCF-7	breast:

No data

Extended variants
information (count: 4262 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:4262 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6848572	chr4:142943219-142943220	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368654509	chr4:142943250-142943251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143836497	chr4:142943281-142943282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573844640	chr4:142943306-142943307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377571385	chr4:142943313-142943314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556479250	chr4:142943373-142943374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150604111	chr4:142943430-142943431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182102701	chr4:142943459-142943460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145596185	chr4:142943460-142943461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558299087	chr4:142943484-142943485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2667120	chr4:142943485-142943486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6829094	chr4:142943554-142943555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375673485	chr4:142943576-142943577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559731137	chr4:142943587-142943588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80261614	chr4:142943739-142943740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529274188	chr4:142943749-142943750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185352743	chr4:142943767-142943768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528045309	chr4:142943788-142943789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562814868	chr4:142943825-142943826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577974653	chr4:142943840-142943841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540159348	chr4:142943865-142943866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190900153	chr4:142943890-142943891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566234873	chr4:142943897-142943898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367919421	chr4:142943928-142943929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546199383	chr4:142943949-142943950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183975468	chr4:142943950-142943951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558183430	chr4:142943977-142943978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2645828	chr4:142944000-142944001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556516392	chr4:142944025-142944026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538843921	chr4:142944029-142944030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529149883	chr4:142944047-142944048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376248850	chr4:142944053-142944054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553960964	chr4:142944057-142944058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189176290	chr4:142944070-142944071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11736202	chr4:142944080-142944081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs79058486	chr4:142944170-142944171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75938847	chr4:142944183-142944184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151316909	chr4:142944212-142944213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573972755	chr4:142944305-142944306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531087601	chr4:142944317-142944318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544168460	chr4:142944322-142944323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562854347	chr4:142944353-142944354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533402478	chr4:142944379-142944380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192876585	chr4:142944496-142944497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149384926	chr4:142944515-142944516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527868616	chr4:142944553-142944554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548830686	chr4:142944586-142944587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549637607	chr4:142944653-142944654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72716481	chr4:142944681-142944682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529024275	chr4:142944684-142944685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142940600-142948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142941800-142957800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:142942000-142953200	Weak transcription	Right Ventricle	heart
4	chr4:142942200-142949000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:142942200-142949000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:142942400-142949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:142942800-142945000	Enhancers	Stomach Mucosa	stomach
8	chr4:142943000-142944000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:142943000-142944200	Enhancers	Fetal Intestine Small	intestine
10	chr4:142943200-142944000	Enhancers	Fetal Intestine Large	intestine
11	chr4:142943200-142945600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:142943400-142949000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:142943800-142944000	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:142943800-142944200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:142943800-142944200	Enhancers	Pancreas	Pancrea
16	chr4:142943800-142965400	Weak transcription	Aorta	Aorta
17	chr4:142944000-142948800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr4:142944200-142948400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:142944200-142955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:142944200-142958600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:142944200-142962800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:142945200-142946800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:142945400-142951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:142945400-142954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:142945400-142983200	Weak transcription	Left Ventricle	heart
26	chr4:142945600-142948000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:142945600-142948200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:142945600-142949000	Weak transcription	NHEK	skin
29	chr4:142945600-142953400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:142945600-142955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:142945800-142949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:142946800-142947600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:142947000-142948600	Weak transcription	HMEC	breast
34	chr4:142947000-142948600	Weak transcription	HSMM	muscle
35	chr4:142947400-142958000	Weak transcription	HSMMtube	muscle
36	chr4:142947600-142949000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:142947600-142949200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:142947800-142949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:142947800-142977200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:142948000-142948200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:142948000-142950800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:142948200-142948400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:142948200-142951800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:142948200-142959800	Weak transcription	Dnd41	blood
45	chr4:142948400-142948600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:142948400-142949400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:142948400-142949600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:142948400-142950000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:142948400-142951800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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