Variant report

Variant	nsv830097
Chromosome Location	chr4:142949705-143136372
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:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143118041..143120721-chr4:143123483..143126182,2	MCF-7	breast:
2	chr4:142961970..142965946-chr4:142968550..142971585,4	MCF-7	breast:
3	chr4:143110474..143112646-chr4:143112812..143114459,2	MCF-7	breast:
4	chr4:143018754..143020846-chr4:143024197..143025698,2	MCF-7	breast:
5	chr4:143086848..143088594-chr4:143091146..143093660,2	K562	blood:
6	chr4:143086848..143088594-chr4:143091146..143093660,2	K562	blood:
7	chr4:143122005..143123779-chr4:143127335..143129791,2	MCF-7	breast:
8	chr4:143120582..143123051-chr4:143127171..143130077,2	MCF-7	breast:
9	chr4:143120582..143123051-chr4:143127171..143130077,2	MCF-7	breast:
10	chr4:143087448..143089184-chr4:143091466..143093701,2	MCF-7	breast:
11	chr4:142942418..142944888-chr4:142957295..142959081,2	MCF-7	breast:
12	chr4:142961970..142965946-chr4:142968550..142971585,4	MCF-7	breast:
13	chr4:143122005..143123779-chr4:143127335..143129791,2	MCF-7	breast:
14	chr4:143023344..143025371-chr4:143034137..143035895,2	MCF-7	breast:
15	chr4:143092506..143095371-chr4:143126612..143129573,2	MCF-7	breast:
16	chr4:142993302..142997726-chr4:142999331..143002418,4	MCF-7	breast:
17	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:
18	chr4:142951947..142953584-chr4:142957347..142959849,2	MCF-7	breast:
19	chr4:142946395..142950633-chr4:142951002..142956006,4	MCF-7	breast:
20	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:
21	chr4:142951947..142953584-chr4:142957347..142959849,2	MCF-7	breast:
22	chr4:143018754..143020846-chr4:143024197..143025698,2	MCF-7	breast:
23	chr4:143130801..143132443-chr4:143135559..143138476,2	MCF-7	breast:
24	chr4:142946395..142950633-chr4:142951002..142956006,4	MCF-7	breast:
25	chr4:142993302..142997726-chr4:142999331..143002418,4	MCF-7	breast:
26	chr4:143092506..143095371-chr4:143126612..143129573,2	MCF-7	breast:
27	chr4:143117327..143119027-chr4:143120300..143122539,2	MCF-7	breast:
28	chr4:143075946..143078938-chr4:143080859..143082730,2	MCF-7	breast:
29	chr4:143087448..143089184-chr4:143091466..143093701,2	MCF-7	breast:
30	chr4:142781808..142782795-chr4:143048083..143048829,2	MCF-7	breast:
31	chr4:142950691..142953607-chr4:142965020..142967110,2	MCF-7	breast:
32	chr15:65596725..65597394-chr4:143092760..143093280,2	Hela-S3	cervix:
33	chr4:143110474..143112646-chr4:143112812..143114459,2	MCF-7	breast:
34	chr4:143003226..143005064-chr4:143008065..143011031,2	MCF-7	breast:
35	chr4:143006661..143009015-chr4:143011228..143013827,2	MCF-7	breast:
36	chr4:143074063..143075563-chr4:143078201..143080746,2	MCF-7	breast:
37	chr4:143130801..143132443-chr4:143135559..143138476,2	MCF-7	breast:
38	chr4:142950691..142953607-chr4:142965020..142967110,2	MCF-7	breast:
39	chr4:143023344..143025371-chr4:143034137..143035895,2	MCF-7	breast:
40	chr4:143118041..143120721-chr4:143123483..143126182,2	MCF-7	breast:
41	chr4:143117327..143119027-chr4:143120300..143122539,2	MCF-7	breast:
42	chr4:143020271..143023015-chr4:143028673..143031244,3	MCF-7	breast:
43	chr4:143048538..143050644-chr4:143051888..143053940,2	MCF-7	breast:
44	chr4:143020271..143023015-chr4:143028673..143031244,3	MCF-7	breast:
45	chr4:143075946..143078938-chr4:143080859..143082730,2	MCF-7	breast:
46	chr4:143074063..143075563-chr4:143078201..143080746,2	MCF-7	breast:
47	chr4:143048538..143050644-chr4:143051888..143053940,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 7228 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:7228 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542372931	chr4:142949737-142949738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548821033	chr4:142949739-142949740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563747773	chr4:142949754-142949755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530940447	chr4:142949788-142949789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546176238	chr4:142949832-142949833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34280694	chr4:142949864-142949865	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371573342	chr4:142949889-142949890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201806495	chr4:142949917-142949918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528829111	chr4:142949920-142949921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547262065	chr4:142949935-142949936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368806872	chr4:142950008-142950009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375588188	chr4:142950049-142950050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568595082	chr4:142950056-142950057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374251810	chr4:142950057-142950058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368169338	chr4:142950087-142950088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111879524	chr4:142950101-142950102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377285227	chr4:142950119-142950120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372158601	chr4:142950170-142950171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550282681	chr4:142950201-142950202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139918596	chr4:142950214-142950215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539050324	chr4:142950235-142950236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551858765	chr4:142950272-142950273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528282030	chr4:142950284-142950285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557515472	chr4:142950406-142950407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62329504	chr4:142950410-142950411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533878780	chr4:142950441-142950442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555615886	chr4:142950478-142950479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141667999	chr4:142950536-142950537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571691321	chr4:142950542-142950543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148146915	chr4:142950565-142950566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142135435	chr4:142950566-142950567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56164646	chr4:142950569-142950570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149752298	chr4:142950617-142950618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544389374	chr4:142950630-142950631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557497706	chr4:142950686-142950687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557503980	chr4:142950691-142950692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575758582	chr4:142950714-142950715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546314947	chr4:142950768-142950769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148406256	chr4:142950806-142950807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564361806	chr4:142950834-142950835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189987449	chr4:142950901-142950902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182446933	chr4:142950907-142950908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562378711	chr4:142950917-142950918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142494397	chr4:142950964-142950965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529461756	chr4:142950975-142950976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550716210	chr4:142950976-142950977	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536649825	chr4:142950999-142951000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569106260	chr4:142951004-142951005	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147589409	chr4:142951025-142951026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557341822	chr4:142951064-142951065	Weak transcription Strong transcription 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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2050 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142941800-142957800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:142942000-142953200	Weak transcription	Right Ventricle	heart
3	chr4:142943800-142965400	Weak transcription	Aorta	Aorta
4	chr4:142944200-142955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:142944200-142958600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:142944200-142962800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:142945400-142951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:142945400-142954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:142945400-142983200	Weak transcription	Left Ventricle	heart
10	chr4:142945600-142953400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:142945600-142955800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:142945800-142949800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:142947400-142958000	Weak transcription	HSMMtube	muscle
14	chr4:142947800-142977200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:142948000-142950800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:142948200-142951800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:142948200-142959800	Weak transcription	Dnd41	blood
18	chr4:142948400-142950000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:142948400-142951800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:142948400-143029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:142948600-142950000	Strong transcription	HSMM	muscle
22	chr4:142948600-142950200	Strong transcription	HMEC	breast
23	chr4:142948800-142954600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr4:142949000-142950000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:142949000-142950200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:142949000-142951400	Strong transcription	Primary T cells from cord blood	blood
27	chr4:142949200-142950200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:142949200-142958600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:142949400-142950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:142949400-142951800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:142949400-142977000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:142949600-142955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:142949600-142957800	Weak transcription	NHEK	skin
34	chr4:142949600-142977000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:142949800-142950200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:142949800-142954400	Enhancers	Fetal Heart	heart
37	chr4:142950000-142956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:142950000-142957800	Weak transcription	HSMM	muscle
39	chr4:142950000-142962200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:142950200-142955400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:142950200-142955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:142950200-142956600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:142950200-142957800	Weak transcription	HMEC	breast
44	chr4:142950200-142976600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:142950800-142956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:142951400-142954400	Weak transcription	Primary T cells from cord blood	blood
47	chr4:142951800-142955000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:142951800-142956600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:142953000-142955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:142953200-142953800	Enhancers	Right Ventricle	heart

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