Variant report

Variant	esv1039100
Chromosome Location	chr16:72318928-72318940
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	chr16:72316333..72319342-chr16:72319918..72322341,3	K562	blood:
2	chr16:72318452..72319025-chr7:141320935..141321919,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 65 )

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	rs71156105	chr16:72318929-72318930	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60954063	chr16:72318937-72318938	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386791997	chr16:72318940-72318941	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72302600-72332000	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72313400-72323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:72315600-72353600	Weak transcription	Dnd41	blood
4	chr16:72315800-72320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:72316000-72319600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:72316000-72323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72317000-72319000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:72317400-72319000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:72317400-72331800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:72318000-72319600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:72318200-72319000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:72318200-72319800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:72318200-72320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr16:72318200-72320000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:72318200-72320000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:72318200-72320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr16:72318200-72324200	Enhancers	HMEC	breast
19	chr16:72318400-72319000	Enhancers	NHEK	skin
20	chr16:72318400-72319200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr16:72318400-72319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:72318400-72319600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:72318400-72320000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr16:72318400-72320000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:72318600-72319200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr16:72318600-72320000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr16:72318600-72324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:72318600-72329200	Weak transcription	HepG2	liver
29	chr16:72318800-72319000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr16:72318800-72319400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:72318800-72319600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:72318800-72320000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr16:72318800-72320600	Weak transcription	Thymus	Thymus
34	chr16:72318800-72323600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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