Variant report

Variant	nsv261710
Chromosome Location	chr4:8316929-8316929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8311363..8313807-chr4:8315101..8317109,2	K562	blood:
2	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
3	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:
4	chr4:8183603..8185806-chr4:8316475..8318494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125089	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 53 )

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	rs112730011	chr4:8316929-8316930	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8279000-8317200	Weak transcription	Gastric	stomach
2	chr4:8311600-8317200	Weak transcription	Right Atrium	heart
3	chr4:8311800-8320800	Weak transcription	Psoas Muscle	Psoas
4	chr4:8312400-8317200	Weak transcription	Right Ventricle	heart
5	chr4:8316400-8318800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:8316600-8317400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr4:8316600-8317400	Enhancers	Stomach Smooth Muscle	stomach
8	chr4:8316600-8317800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr4:8316600-8318600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:8316600-8318600	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
15	chr4:8316800-8317200	Enhancers	Hela-S3	cervix
16	chr4:8316800-8317400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:8316800-8317400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:8316800-8317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:8316800-8317400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:8316800-8317800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:8316800-8318000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:8316800-8318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:8316800-8318200	Enhancers	Fetal Intestine Large	intestine
24	chr4:8316800-8318400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:8316800-8318400	Enhancers	Left Ventricle	heart
26	chr4:8316800-8318600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:8316800-8318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:8316800-8318800	Enhancers	Thymus	Thymus
30	chr4:8316800-8319000	Enhancers	Ovary	ovary
31	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
33	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion

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