Variant report

Variant	nsv247763
Chromosome Location	chr4:920663-920667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:920273..922423-chr4:994508..996161,2	K562	blood:
2	chr4:900673..902303-chr4:918486..920857,2	K562	blood:
3	chr4:910127..911959-chr4:919976..922093,2	K562	blood:
4	chr4:904418..909522-chr4:918936..921597,4	K562	blood:
5	chr4:773213..775149-chr4:920055..922373,2	K562	blood:
6	chr4:920442..922045-chr4:924333..926135,2	MCF-7	breast:
7	chr4:919599..922522-chr4:986652..989402,2	K562	blood:
8	chr4:920431..925400-chr4:1002690..1006792,6	K562	blood:

Variant related genes	Relation type
ENSG00000127418	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000178950	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113187740	chr4:920663-920664	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs113304040	chr4:920667-920668	Weak transcription Strong transcription	Chromatin interactive region	3 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:897000-924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:905400-922200	Weak transcription	HepG2	liver
3	chr4:905600-923000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:906800-924000	Weak transcription	NHLF	lung
5	chr4:906800-924800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:907000-924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:907200-923200	Weak transcription	Brain Angular Gyrus	brain
8	chr4:907200-924200	Weak transcription	Fetal Brain Female	brain
9	chr4:907400-923800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:907600-923800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:907600-924000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:907600-924000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:909200-922800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:909200-923000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:909400-924600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:909600-923200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:910800-925200	Weak transcription	Aorta	Aorta
18	chr4:913800-921600	Weak transcription	Psoas Muscle	Psoas
19	chr4:915800-924000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:916000-924000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:916000-924600	Weak transcription	Brain Substantia Nigra	brain
22	chr4:916800-924000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:917000-921600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:917000-922800	Weak transcription	Dnd41	blood
25	chr4:917000-924200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:917200-922200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:917200-924000	Weak transcription	Fetal Thymus	thymus
28	chr4:917200-924600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:918400-923800	Weak transcription	HSMM	muscle
30	chr4:918600-921600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:918600-923800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:918800-923600	Weak transcription	Osteobl	bone
33	chr4:918800-924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:919000-923200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:919200-922200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:919200-923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:919200-923000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:919200-923200	Weak transcription	Hela-S3	cervix
39	chr4:919200-923400	Strong transcription	Fetal Stomach	stomach
40	chr4:919200-923800	Weak transcription	NH-A	brain
41	chr4:919200-924200	Weak transcription	HMEC	breast
42	chr4:919200-924800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:919400-923200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:919400-923800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:919400-923800	Weak transcription	HUVEC	blood vessel
46	chr4:919600-923800	Weak transcription	NHEK	skin
47	chr4:919600-924200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:919600-924400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:919600-924400	Weak transcription	NHDF-Ad	bronchial
50	chr4:919800-921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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