Variant report

Variant	nsv165010
Chromosome Location	chr20:13233993-13233993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13225351..13227078-chr20:13232726..13234413,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225956	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	rs33928121	chr20:13233993-13233994	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13218800-13243200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:13229800-13234200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:13230200-13280200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr20:13230400-13235200	Weak transcription	Lung	lung
5	chr20:13230400-13243800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr20:13231000-13242200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:13231200-13234000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:13231200-13242800	Weak transcription	Dnd41	blood
9	chr20:13231400-13238800	Weak transcription	Pancreas	Pancrea
10	chr20:13232600-13234000	Enhancers	HepG2	liver
11	chr20:13233000-13234200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:13233200-13235600	Enhancers	Fetal Thymus	thymus
13	chr20:13233400-13234400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr20:13233400-13234400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr20:13233400-13234600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr20:13233600-13234200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:13233600-13234200	Enhancers	Primary T cells from cord blood	blood
18	chr20:13233600-13234400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:13233600-13234400	Enhancers	Thymus	Thymus
20	chr20:13233800-13234000	Enhancers	Placenta	Placenta
21	chr20:13233800-13234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:13233800-13234400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr20:13233800-13234400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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