Variant report

Variant	esv3352550
Chromosome Location	chr16:80661179-80661729
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	chr16:80653589..80657400-chr16:80657593..80661612,3	K562	blood:
2	chr16:80654014..80661253-chr16:80836600..80840694,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf61-2	chr16:80661448-80662276	ENSG00000260064.1

Variant related genes	Relation type
ENSG00000166446	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77975819	chr16:80661190-80661191	Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545500517	chr16:80661206-80661207	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375534102	chr16:80661212-80661213	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555713557	chr16:80661251-80661252	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557393737	chr16:80661263-80661264	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368408854	chr16:80661278-80661279	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185183845	chr16:80661279-80661280	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368967866	chr16:80661322-80661323	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139549803	chr16:80661350-80661351	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143516347	chr16:80661358-80661359	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4889173	chr16:80661398-80661399	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190082075	chr16:80661402-80661403	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192735151	chr16:80661411-80661412	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562943889	chr16:80661472-80661473	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535208239	chr16:80661476-80661477	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533537189	chr16:80661503-80661504	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs146749051	chr16:80661551-80661552	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs4889174	chr16:80661563-80661564	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4889175	chr16:80661619-80661620	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76842958	chr16:80661700-80661701	Weak transcription ZNF genes & repeats Enhancers Strong transcription	lncRNA	n/a	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
4	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
13	chr16:80647000-80665000	Weak transcription	Gastric	stomach
14	chr16:80650000-80661800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:80653200-80668200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:80653600-80662200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr16:80653600-80666800	Weak transcription	Esophagus	oesophagus
18	chr16:80653600-80667400	Weak transcription	Fetal Stomach	stomach
19	chr16:80653800-80662000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:80654400-80662000	Weak transcription	Liver	Liver
21	chr16:80654400-80667800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:80654400-80668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:80654800-80662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:80655000-80661800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:80655000-80662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:80657200-80668000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:80658000-80661600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:80658000-80667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:80658000-80668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:80658200-80661800	Weak transcription	Aorta	Aorta
31	chr16:80658200-80662000	Weak transcription	Spleen	Spleen
32	chr16:80658400-80666600	Weak transcription	HUVEC	blood vessel
33	chr16:80658800-80668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:80659800-80661400	Weak transcription	Hela-S3	cervix
35	chr16:80660000-80668800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:80660200-80662000	Weak transcription	Placenta	Placenta
37	chr16:80660200-80666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:80660800-80661200	Flanking Active TSS	GM12878-XiMat	blood
39	chr16:80661000-80661600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:80661200-80662200	Enhancers	GM12878-XiMat	blood
41	chr16:80661400-80662000	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:80661400-80667600	Strong transcription	Hela-S3	cervix
43	chr16:80661600-80663600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr16:80661600-80666800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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