Variant report

Variant	esv2472266
Chromosome Location	chr4:1314427-1314429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1282487..1285160-chr4:1313904..1316772,2	MCF-7	breast:
2	chr4:1314077..1316689-chr4:1338914..1341716,2	MCF-7	breast:
3	chr4:1240371..1243213-chr4:1313028..1314710,2	MCF-7	breast:
4	chr4:1313294..1315156-chr4:1320127..1321902,2	MCF-7	breast:
5	chr4:1310884..1316010-chr4:1322677..1327905,6	MCF-7	breast:
6	chr4:1313002..1315500-chr4:1338426..1340938,2	MCF-7	breast:
7	chr4:1281929..1283740-chr4:1313199..1316127,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163945	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000159692	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151082286	chr4:1314427-1314428	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1304400-1317200	Weak transcription	HSMMtube	muscle
3	chr4:1304400-1317400	Weak transcription	Fetal Brain Male	brain
4	chr4:1305000-1314800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:1305000-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:1305200-1314600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:1305200-1315200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
11	chr4:1305400-1316000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:1305800-1317400	Weak transcription	Right Atrium	heart
13	chr4:1306000-1323400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr4:1306200-1322200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:1306400-1315200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:1308800-1321200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:1309400-1317000	Weak transcription	NH-A	brain
19	chr4:1310400-1316400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:1310600-1317400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:1310600-1321400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:1310800-1321800	Strong transcription	Primary T cells from cord blood	blood
23	chr4:1310800-1323200	Weak transcription	Psoas Muscle	Psoas
24	chr4:1311200-1321000	Weak transcription	Small Intestine	intestine
25	chr4:1311800-1321000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:1311800-1322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:1312200-1317000	Weak transcription	Stomach Mucosa	stomach
28	chr4:1312200-1321800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:1312600-1316200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:1312800-1315400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:1312800-1315400	Weak transcription	Ovary	ovary
32	chr4:1312800-1315400	Weak transcription	NHLF	lung
33	chr4:1312800-1317000	Weak transcription	HUVEC	blood vessel
34	chr4:1312800-1317200	Weak transcription	NHDF-Ad	bronchial
35	chr4:1312800-1317400	Weak transcription	Brain Substantia Nigra	brain
36	chr4:1313000-1315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:1313000-1315400	Weak transcription	Pancreas	Pancrea
38	chr4:1313000-1315600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:1313000-1315600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:1313000-1317400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:1313000-1318800	Weak transcription	Aorta	Aorta
42	chr4:1313200-1314600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:1313200-1315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:1313200-1316000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:1313200-1316000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:1313200-1316400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:1313200-1317000	Weak transcription	Hela-S3	cervix
48	chr4:1313200-1317600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:1313400-1314800	Weak transcription	NHEK	skin
50	chr4:1313400-1315000	Weak transcription	GM12878-XiMat	blood

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