Variant report

Variant	esv1351179
Chromosome Location	chr16:81581755-81581756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81478412..81480590-chr16:81581161..81582910,2	MCF-7	breast:
2	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
3	chr16:81581234..81583054-chr16:81583283..81584889,2	MCF-7	breast:
4	chr16:81575449..81577780-chr16:81580287..81583193,2	K562	blood:
5	chr16:81580564..81583241-chr16:81583490..81586012,3	K562	blood:

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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	rs11351275	chr16:81581756-81581757	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81568000-81582000	Genic enhancers	A549	lung
6	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
7	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:81575000-81587600	Enhancers	Lung	lung
10	chr16:81576400-81583000	Enhancers	Primary hematopoietic stem cells	blood
11	chr16:81576800-81582200	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:81576800-81583000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:81577000-81583600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:81577400-81583600	Weak transcription	K562	blood
15	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81577800-81582400	Weak transcription	Fetal Kidney	kidney
18	chr16:81578000-81581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:81578200-81581800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:81578200-81584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:81578400-81583600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:81578600-81583400	Weak transcription	Fetal Brain Male	brain
23	chr16:81578600-81583800	Weak transcription	HUVEC	blood vessel
24	chr16:81578800-81584000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:81578800-81585800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr16:81578800-81587000	Weak transcription	NHLF	lung
27	chr16:81579000-81582000	Weak transcription	Colonic Mucosa	Colon
28	chr16:81579000-81583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:81579000-81583800	Weak transcription	NH-A	brain
30	chr16:81579000-81584800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:81579000-81585400	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:81579000-81585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr16:81579000-81585400	Weak transcription	Ovary	ovary
34	chr16:81579000-81586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:81579200-81582600	Weak transcription	Fetal Lung	lung
36	chr16:81579200-81582800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:81579200-81583400	Weak transcription	NHDF-Ad	bronchial
38	chr16:81579200-81584600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:81579200-81584600	Weak transcription	Osteobl	bone
40	chr16:81579400-81582600	Weak transcription	Brain Angular Gyrus	brain
41	chr16:81579400-81586800	Weak transcription	Brain Substantia Nigra	brain
42	chr16:81579600-81583400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr16:81579600-81584800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:81579800-81582200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr16:81579800-81582400	Weak transcription	HMEC	breast
46	chr16:81579800-81583800	Weak transcription	GM12878-XiMat	blood
47	chr16:81580000-81582000	Weak transcription	Esophagus	oesophagus
48	chr16:81580000-81582400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81580000-81583400	Enhancers	Fetal Muscle Trunk	muscle
50	chr16:81580000-81584000	Weak transcription	Brain Inferior Temporal Lobe	brain

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