Variant report

Variant	esv1811990
Chromosome Location	chr4:1389528-1391235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
2	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
3	chr4:1391181..1394010-chr4:1399067..1401828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235608	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143447149	chr4:1389533-1389534	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375041221	chr4:1389534-1389535	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115895472	chr4:1389538-1389539	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367966601	chr4:1389547-1389548	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370690293	chr4:1389548-1389549	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550303044	chr4:1389556-1389557	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139000482	chr4:1389557-1389558	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142260088	chr4:1389571-1389572	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115679864	chr4:1389588-1389589	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375014471	chr4:1389594-1389595	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544074983	chr4:1389599-1389600	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368420407	chr4:1389605-1389606	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146895743	chr4:1389628-1389629	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201430636	chr4:1389636-1389637	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138439520	chr4:1389637-1389638	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376958256	chr4:1389651-1389652	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546704857	chr4:1389711-1389712	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559507070	chr4:1389810-1389811	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533107306	chr4:1389819-1389820	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568869634	chr4:1389821-1389822	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544910261	chr4:1389864-1389865	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563282045	chr4:1389882-1389883	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57180765	chr4:1389891-1389892	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539976732	chr4:1389956-1389957	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375080993	chr4:1389980-1389981	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551711847	chr4:1389987-1389988	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528198366	chr4:1389991-1389992	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113699222	chr4:1390023-1390024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377081468	chr4:1390024-1390025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567122902	chr4:1390025-1390026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373294916	chr4:1390031-1390032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11735428	chr4:1390058-1390059	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571164760	chr4:1390064-1390065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538679531	chr4:1390071-1390072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556995340	chr4:1390072-1390073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75142589	chr4:1390080-1390081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537721920	chr4:1390081-1390082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181035625	chr4:1390103-1390104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574147105	chr4:1390104-1390105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534810915	chr4:1390132-1390133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553390519	chr4:1390138-1390139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139322899	chr4:1390163-1390164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545045057	chr4:1390164-1390165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563327976	chr4:1390186-1390187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575185042	chr4:1390204-1390205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542879380	chr4:1390207-1390208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76028797	chr4:1390234-1390235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372013730	chr4:1390252-1390253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368604437	chr4:1390270-1390271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78300341	chr4:1390313-1390314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1360800-1389600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:1378400-1390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:1380400-1390200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:1380400-1391000	Weak transcription	Right Ventricle	heart
5	chr4:1380400-1391200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:1380400-1391400	Weak transcription	HepG2	liver
7	chr4:1380600-1390200	Weak transcription	Colonic Mucosa	Colon
8	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
9	chr4:1382600-1389800	Weak transcription	HSMM	muscle
10	chr4:1382600-1390400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:1382800-1390000	Weak transcription	NHEK	skin
12	chr4:1382800-1390200	Weak transcription	Osteobl	bone
13	chr4:1382800-1391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:1384400-1391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr4:1384800-1389600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:1385200-1389600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr4:1385600-1390000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:1385800-1389800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:1386000-1391000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr4:1386200-1389600	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:1386200-1389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:1386200-1390600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:1386400-1389600	Strong transcription	Brain Hippocampus Middle	brain
24	chr4:1386400-1389600	ZNF genes & repeats	Lung	lung
25	chr4:1386400-1391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:1386400-1391200	ZNF genes & repeats	Fetal Stomach	stomach
27	chr4:1386600-1389600	ZNF genes & repeats	Spleen	Spleen
28	chr4:1386800-1389800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:1387200-1390200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:1387600-1389600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:1387600-1389600	ZNF genes & repeats	Pancreas	Pancrea
32	chr4:1387600-1389800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr4:1387600-1390000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:1387600-1390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:1387600-1391200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:1387600-1391200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
37	chr4:1387600-1391200	ZNF genes & repeats	Dnd41	blood
38	chr4:1387800-1389800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:1387800-1390000	Strong transcription	A549	lung
40	chr4:1387800-1390600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:1387800-1391800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:1388000-1389600	Strong transcription	Placenta	Placenta
43	chr4:1388000-1389600	Strong transcription	Ovary	ovary
44	chr4:1388000-1390000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:1388000-1390000	Strong transcription	Gastric	stomach
46	chr4:1388000-1390800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:1388000-1391000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:1388000-1391000	Weak transcription	Brain Angular Gyrus	brain
49	chr4:1388000-1391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:1388000-1391000	Weak transcription	Brain Substantia Nigra	brain

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