Variant report

Variant	esv2204607
Chromosome Location	chr16:81055365-81055366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81053262..81055946-chr16:81062478..81064809,2	K562	blood:
2	chr16:81054446..81058037-chr16:81066516..81068816,3	MCF-7	breast:
3	chr16:81055198..81056851-chr16:81057117..81060106,2	K562	blood:
4	chr16:81054912..81056774-chr16:81069318..81071861,2	MCF-7	breast:
5	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
6	chr16:81053514..81055829-chr16:81056887..81058574,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166451	chromatin interactions
ENSG00000261061	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000260213	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	rs554955187	chr16:81055366-81055367	Strong transcription Weak transcription	Chromatin interactive region	5 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
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041800-81069000	Weak transcription	Ovary	ovary
2	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
3	chr16:81042000-81057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:81042000-81058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
6	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
7	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:81042200-81058600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:81042200-81068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
11	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:81042400-81056200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:81042400-81069000	Weak transcription	Brain Germinal Matrix	brain
14	chr16:81042400-81069000	Weak transcription	Fetal Heart	heart
15	chr16:81042600-81064200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:81043000-81059200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:81043000-81063800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:81043000-81064600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:81043000-81065400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:81043200-81062800	Strong transcription	K562	blood
21	chr16:81043200-81065200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:81043400-81058800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:81044000-81055600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:81044000-81057400	Strong transcription	HepG2	liver
25	chr16:81044000-81064400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:81044000-81065200	Strong transcription	Thymus	Thymus
27	chr16:81044400-81055800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:81044400-81058800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr16:81044400-81059200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:81044400-81064000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:81044600-81058400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81044600-81064000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr16:81044800-81058800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:81044800-81059000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr16:81044800-81065200	Strong transcription	Hela-S3	cervix
36	chr16:81045000-81058200	Strong transcription	HUVEC	blood vessel
37	chr16:81045000-81058800	Strong transcription	Fetal Thymus	thymus
38	chr16:81045000-81064000	Strong transcription	Dnd41	blood
39	chr16:81045200-81062800	Strong transcription	Osteobl	bone
40	chr16:81045200-81065200	Strong transcription	A549	lung
41	chr16:81045400-81065200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:81045600-81058800	Strong transcription	Liver	Liver
43	chr16:81045600-81059000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:81045600-81059200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr16:81046200-81058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:81046400-81057600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr16:81046400-81064600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:81046600-81057200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:81046600-81057200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:81046600-81059000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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