Variant report

Variant	esv3383896
Chromosome Location	chr16:81004252-81004371
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	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:
2	chr16:81004010..81005994-chr16:81040056..81041690,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CENPN-1	chr16:81003707-81005460	NONHSAT143915

Variant related genes	Relation type
ENSG00000166451	chromatin interactions
ENSG00000103121	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548377224	chr16:81004262-81004263	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs141649606	chr16:81004267-81004268	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs536909582	chr16:81004300-81004301	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs558190973	chr16:81004302-81004303	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs7202141	chr16:81004307-81004308	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181605495	chr16:81004314-81004315	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs140811613	chr16:81004355-81004356	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80989400-81008800	Weak transcription	Gastric	stomach
2	chr16:80994600-81007800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:80994600-81026400	Weak transcription	HSMMtube	muscle
4	chr16:80994800-81023400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80996000-81007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80996200-81008600	Weak transcription	Aorta	Aorta
7	chr16:80996600-81018600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:80997800-81008800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:80998000-81009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80998200-81009400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:80998200-81013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:80998600-81005800	Weak transcription	GM12878-XiMat	blood
14	chr16:80998600-81008000	Weak transcription	NHDF-Ad	bronchial
15	chr16:80998600-81014800	Weak transcription	Brain Angular Gyrus	brain
16	chr16:81000200-81006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:81000200-81007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:81000200-81008000	Weak transcription	NHEK	skin
19	chr16:81001000-81005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:81001000-81020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81001200-81005800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:81001200-81007600	Weak transcription	Primary B cells from cord blood	blood
23	chr16:81001200-81008200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr16:81001200-81008600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:81001200-81008800	Weak transcription	Spleen	Spleen
26	chr16:81001200-81013600	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:81001400-81006400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:81001400-81006600	Weak transcription	Left Ventricle	heart
29	chr16:81001400-81008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:81001400-81010200	Weak transcription	Colonic Mucosa	Colon
31	chr16:81001400-81013800	Weak transcription	Brain Anterior Caudate	brain
32	chr16:81001400-81026400	Weak transcription	NHLF	lung
33	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:81001600-81006400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr16:81001600-81006800	Weak transcription	Fetal Intestine Small	intestine
36	chr16:81001600-81007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr16:81001600-81007600	Weak transcription	Fetal Muscle Leg	muscle
38	chr16:81001600-81008600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr16:81001600-81008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:81001800-81006800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:81001800-81008800	Weak transcription	Ovary	ovary
42	chr16:81002000-81007600	Weak transcription	Placenta	Placenta
43	chr16:81002000-81013800	Weak transcription	Brain Germinal Matrix	brain
44	chr16:81002200-81006000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr16:81002200-81008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:81002400-81007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:81002400-81007800	Weak transcription	K562	blood
48	chr16:81002400-81008600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr16:81002400-81013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:81002600-81004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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