Variant report

Variant	esv3372952
Chromosome Location	chr4:1390152-1393450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1391126..1393483-chr4:1395042..1398028,2	MCF-7	breast:
2	chr4:1367559..1370361-chr4:1391933..1394578,2	K562	blood:
3	chr4:1385707..1387814-chr4:1390928..1394108,3	K562	blood:
4	chr4:1391809..1396481-chr4:1400263..1404304,5	K562	blood:
5	chr4:1391181..1394010-chr4:1399067..1401828,2	MCF-7	breast:
6	chr4:1393172..1395524-chr4:1397007..1399469,2	K562	blood:

Variant related genes	Relation type
ENSG00000235608	chromatin interactions
ENSG00000163945	chromatin interactions

Extended variants
information (count: 229 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139322899	chr4:1390163-1390164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545045057	chr4:1390164-1390165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563327976	chr4:1390186-1390187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575185042	chr4:1390204-1390205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542879380	chr4:1390207-1390208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76028797	chr4:1390234-1390235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372013730	chr4:1390252-1390253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368604437	chr4:1390270-1390271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78300341	chr4:1390313-1390314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143247430	chr4:1390325-1390326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187161553	chr4:1390359-1390360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192511880	chr4:1390401-1390402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115642734	chr4:1390402-1390403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568834016	chr4:1390403-1390404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537760479	chr4:1390428-1390429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549605727	chr4:1390454-1390455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372931433	chr4:1390468-1390469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567772199	chr4:1390507-1390508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535261234	chr4:1390538-1390539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374910857	chr4:1390539-1390540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147507857	chr4:1390542-1390543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538713224	chr4:1390543-1390544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148125698	chr4:1390547-1390548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575194258	chr4:1390559-1390560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542570817	chr4:1390595-1390596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561280059	chr4:1390633-1390634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573053256	chr4:1390652-1390653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540450896	chr4:1390653-1390654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182141126	chr4:1390670-1390671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186815569	chr4:1390675-1390676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532258475	chr4:1390693-1390694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368639731	chr4:1390700-1390701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562467424	chr4:1390738-1390739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578049934	chr4:1390763-1390764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140702422	chr4:1390788-1390789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531034235	chr4:1390790-1390791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567995317	chr4:1390791-1390792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190568173	chr4:1390795-1390796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182436233	chr4:1390821-1390822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564159230	chr4:1390841-1390842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549549920	chr4:1390846-1390847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12108456	chr4:1390863-1390864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs569004378	chr4:1390919-1390920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536699817	chr4:1390933-1390934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78876658	chr4:1390945-1390946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573123899	chr4:1390947-1390948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540120600	chr4:1390957-1390958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187108022	chr4:1390971-1390972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138650119	chr4:1390985-1390986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577063001	chr4:1391008-1391009	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1378400-1390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:1380400-1390200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:1380400-1391000	Weak transcription	Right Ventricle	heart
4	chr4:1380400-1391200	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:1380400-1391400	Weak transcription	HepG2	liver
6	chr4:1380600-1390200	Weak transcription	Colonic Mucosa	Colon
7	chr4:1382200-1392200	Weak transcription	Psoas Muscle	Psoas
8	chr4:1382600-1390400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:1382800-1390200	Weak transcription	Osteobl	bone
10	chr4:1382800-1391200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:1384400-1391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr4:1386000-1391000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr4:1386200-1390600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:1386400-1391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:1386400-1391200	ZNF genes & repeats	Fetal Stomach	stomach
16	chr4:1387200-1390200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:1387600-1390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:1387600-1391200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:1387600-1391200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
20	chr4:1387600-1391200	ZNF genes & repeats	Dnd41	blood
21	chr4:1387800-1390600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:1387800-1391800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:1388000-1390800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:1388000-1391000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:1388000-1391000	Weak transcription	Brain Angular Gyrus	brain
26	chr4:1388000-1391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr4:1388000-1391000	Weak transcription	Brain Substantia Nigra	brain
28	chr4:1388000-1391200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:1388000-1391200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:1388000-1392000	Weak transcription	Left Ventricle	heart
31	chr4:1388200-1390200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:1388200-1390200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:1388200-1390600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:1388400-1390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:1388400-1391200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:1388400-1391200	Weak transcription	Brain Anterior Caudate	brain
37	chr4:1388600-1391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:1388600-1391400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:1388800-1391200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:1388800-1391200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:1389000-1390200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:1389200-1391200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr4:1389400-1391000	Weak transcription	Primary T cells from cord blood	blood
44	chr4:1389600-1390200	Weak transcription	Liver	Liver
45	chr4:1389600-1390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:1389600-1390600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:1389600-1391000	Weak transcription	Adipose Nuclei	Adipose
48	chr4:1389600-1392400	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:1389600-1393400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:1389600-1393600	Weak transcription	Ovary	ovary

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