Variant report

Variant	nsv518959
Chromosome Location	chr4:166010815-166014766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166012189..166014754-chr4:166031668..166033767,2	K562	blood:
2	chr4:166014696..166018661-chr4:166031461..166035597,4	K562	blood:
3	chr4:166008810..166011207-chr4:166017239..166019604,2	K562	blood:

Variant related genes	Relation type
ENSG00000170088	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12498760	chr4:166010815-166010816	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112562556	chr4:166010819-166010820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530819821	chr4:166010821-166010822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181366208	chr4:166010860-166010861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575615613	chr4:166010908-166010909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549216290	chr4:166010916-166010917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75697148	chr4:166010946-166010947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540152121	chr4:166010948-166010949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555436511	chr4:166010965-166010966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375126397	chr4:166010967-166010968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572185171	chr4:166011001-166011002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141381696	chr4:166011017-166011018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529083767	chr4:166011036-166011037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62352204	chr4:166011050-166011051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568681095	chr4:166011053-166011054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562834609	chr4:166011055-166011056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564222835	chr4:166011091-166011092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190934256	chr4:166011093-166011094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150797066	chr4:166011099-166011100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373569254	chr4:166011100-166011101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560503923	chr4:166011101-166011102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527952799	chr4:166011155-166011156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549719625	chr4:166011156-166011157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377512089	chr4:166011170-166011171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567812904	chr4:166011181-166011182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538064410	chr4:166011193-166011194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550398424	chr4:166011213-166011214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568838874	chr4:166011273-166011274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34718571	chr4:166011314-166011315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539554315	chr4:166011317-166011318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71602566	chr4:166011336-166011337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180870493	chr4:166011341-166011342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71602567	chr4:166011342-166011343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572529712	chr4:166011358-166011359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145468710	chr4:166011363-166011364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369126081	chr4:166011366-166011367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60695377	chr4:166011382-166011383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35732863	chr4:166011389-166011390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185753871	chr4:166011448-166011449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113307875	chr4:166011463-166011464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573921221	chr4:166011465-166011466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577977023	chr4:166011470-166011471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543728295	chr4:166011520-166011521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544071453	chr4:166011551-166011552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369418291	chr4:166011593-166011594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112028542	chr4:166011612-166011613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78898499	chr4:166011654-166011655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578020545	chr4:166011659-166011660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10007095	chr4:166011661-166011662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372863030	chr4:166011683-166011684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165990800-166026600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165994600-166032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:165995400-166019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:165996000-166019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:165996000-166033000	Weak transcription	Thymus	Thymus
6	chr4:165996800-166032600	Weak transcription	Hela-S3	cervix
7	chr4:165997400-166018600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:165997800-166032400	Weak transcription	Fetal Brain Male	brain
9	chr4:165999000-166022800	Weak transcription	HUVEC	blood vessel
10	chr4:165999000-166023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:165999200-166020600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:165999400-166033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:165999600-166033000	Weak transcription	Osteobl	bone
14	chr4:166000600-166032800	Weak transcription	NHDF-Ad	bronchial
15	chr4:166001200-166020600	Weak transcription	Fetal Heart	heart
16	chr4:166005000-166012000	Strong transcription	Fetal Intestine Large	intestine
17	chr4:166005000-166015200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:166005000-166023400	Strong transcription	Fetal Stomach	stomach
19	chr4:166005000-166023600	Strong transcription	Ovary	ovary
20	chr4:166005200-166012000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:166005200-166012000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:166005200-166017000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:166005200-166017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:166005200-166018600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr4:166005200-166023200	Strong transcription	Fetal Intestine Small	intestine
26	chr4:166005200-166024200	Strong transcription	Liver	Liver
27	chr4:166005400-166011000	Strong transcription	Lung	lung
28	chr4:166005400-166016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:166005600-166012800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:166005800-166011000	Strong transcription	Fetal Muscle Leg	muscle
31	chr4:166005800-166011800	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:166005800-166026000	Weak transcription	Psoas Muscle	Psoas
33	chr4:166005800-166033000	Weak transcription	NH-A	brain
34	chr4:166006000-166011000	Strong transcription	Placenta	Placenta
35	chr4:166006000-166016200	Weak transcription	HSMM	muscle
36	chr4:166006400-166011000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr4:166006600-166011200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:166006600-166012200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:166006600-166012600	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:166006600-166012800	Strong transcription	Primary T cells from cord blood	blood
41	chr4:166006800-166011800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr4:166007000-166011000	Strong transcription	HepG2	liver
43	chr4:166007200-166033000	Weak transcription	A549	lung
44	chr4:166007400-166032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:166007600-166023000	Weak transcription	K562	blood
46	chr4:166007600-166033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:166007600-166033000	Weak transcription	HSMMtube	muscle
48	chr4:166007800-166020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:166007800-166020600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:166008000-166032600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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