Variant report

Variant	nsv966548
Chromosome Location	chr4:143090441-143093232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:65596725..65597394-chr4:143092760..143093280,2	Hela-S3	cervix:
2	chr4:143092506..143095371-chr4:143126612..143129573,2	MCF-7	breast:
3	chr4:143087448..143089184-chr4:143091466..143093701,2	MCF-7	breast:
4	chr4:143086848..143088594-chr4:143091146..143093660,2	K562	blood:

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142260198	chr4:143090482-143090483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143802666	chr4:143090484-143090485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540887075	chr4:143090576-143090577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113650095	chr4:143090583-143090584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540188894	chr4:143090628-143090629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79232746	chr4:143090633-143090634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538220835	chr4:143090691-143090692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556945121	chr4:143090710-143090711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190090509	chr4:143090753-143090754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192914659	chr4:143090767-143090768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539247873	chr4:143090787-143090788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554375279	chr4:143090793-143090794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564750017	chr4:143090804-143090805	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572127461	chr4:143090807-143090808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs336386	chr4:143090830-143090831	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554634337	chr4:143090834-143090835	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577034818	chr4:143090874-143090875	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184858703	chr4:143090907-143090908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543009607	chr4:143090987-143090988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117547004	chr4:143091025-143091026	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs173045	chr4:143091052-143091053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76542464	chr4:143091082-143091083	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115771575	chr4:143091117-143091118	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1390992	chr4:143091127-143091128	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs336387	chr4:143091130-143091131	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10006332	chr4:143091140-143091141	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77905886	chr4:143091208-143091209	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529884742	chr4:143091230-143091231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113403340	chr4:143091238-143091239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560170473	chr4:143091280-143091281	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531742074	chr4:143091315-143091316	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527781011	chr4:143091324-143091325	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35735527	chr4:143091355-143091356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550160865	chr4:143091357-143091358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552122813	chr4:143091364-143091365	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4956437	chr4:143091382-143091383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539313139	chr4:143091390-143091391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538510872	chr4:143091433-143091434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189743350	chr4:143091454-143091455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs336388	chr4:143091520-143091521	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536845149	chr4:143091546-143091547	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528768843	chr4:143091560-143091561	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180799478	chr4:143091564-143091565	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576039561	chr4:143091577-143091578	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536656725	chr4:143091599-143091600	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185419859	chr4:143091623-143091624	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536018685	chr4:143091662-143091663	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376833745	chr4:143091686-143091687	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369413818	chr4:143091702-143091703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559580612	chr4:143091730-143091731	Weak transcription Strong 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
Renal cell carcinoma	20952505	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143018800-143109600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:143049800-143114400	Weak transcription	Right Ventricle	heart
3	chr4:143051400-143093400	Weak transcription	Left Ventricle	heart
4	chr4:143052400-143111600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:143052600-143094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:143057800-143114400	Weak transcription	Aorta	Aorta
7	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:143061800-143102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:143064200-143093200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:143069800-143112200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:143070400-143134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:143071000-143117800	Weak transcription	Psoas Muscle	Psoas
13	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:143076800-143107200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:143076800-143113200	Weak transcription	Pancreas	Pancrea
16	chr4:143078200-143103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143079200-143093000	Weak transcription	Osteobl	bone
18	chr4:143079600-143093600	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:143081000-143128200	Weak transcription	NHDF-Ad	bronchial
20	chr4:143081800-143091600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:143082000-143091400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:143082000-143091800	Weak transcription	HSMM	muscle
23	chr4:143082000-143092800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:143082000-143130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:143082400-143095000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:143082400-143134800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:143082600-143092800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:143082600-143094200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:143082800-143115800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:143083000-143091600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:143083200-143091600	Weak transcription	HSMMtube	muscle
32	chr4:143083200-143092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:143083200-143093800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:143083200-143100000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:143084600-143090800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:143084600-143099600	Weak transcription	Fetal Heart	heart
37	chr4:143086800-143096600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:143088600-143108200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:143088800-143096200	Weak transcription	Ovary	ovary
40	chr4:143089000-143095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:143089000-143096400	Strong transcription	HMEC	breast
42	chr4:143089000-143108400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:143089200-143095200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:143089400-143118000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:143089600-143092200	Strong transcription	NHEK	skin
46	chr4:143089800-143095800	Strong transcription	Dnd41	blood
47	chr4:143089800-143100000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:143090000-143091800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:143090000-143092200	Weak transcription	Fetal Intestine Large	intestine
50	chr4:143090000-143117400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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