Variant report

Variant	esv1404915
Chromosome Location	chr4:751975-751980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:751524-752111	K562	blood:	n/a	n/a
2	SP1	chr4:751874-752600	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr4:751861-752671	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000272588	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551003779	chr4:751975-751976	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs71166830	chr4:751976-751977	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61081270	chr4:751980-751981	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
6	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
8	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:736600-752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:741400-752000	Strong transcription	Fetal Intestine Small	intestine
12	chr4:741400-752400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:741400-752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:741400-752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:741400-752800	Strong transcription	Fetal Thymus	thymus
16	chr4:741600-752400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:741600-752400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:741600-752400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:741600-752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:742600-754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:742800-754200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
24	chr4:742800-764000	Weak transcription	Small Intestine	intestine
25	chr4:744200-754800	Weak transcription	NHEK	skin
26	chr4:744400-752200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:744400-753800	Weak transcription	A549	lung
28	chr4:744400-763400	Weak transcription	Right Atrium	heart
29	chr4:744600-753800	Weak transcription	HUVEC	blood vessel
30	chr4:744600-754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:745400-754800	Weak transcription	NHDF-Ad	bronchial
32	chr4:745600-752800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:745800-752400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:746000-753800	Weak transcription	Fetal Heart	heart
35	chr4:746000-753800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:746000-754400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
38	chr4:746200-752400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:746200-754400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
41	chr4:746600-752000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:746800-752400	Strong transcription	Fetal Muscle Leg	muscle
43	chr4:747000-752600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:747000-753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:747000-754400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:747200-754400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
49	chr4:749000-753800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:749000-754000	Weak transcription	Primary B cells from cord blood	blood

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