Variant report

Variant	nsv572899
Chromosome Location	chr16:64814244-64870659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:64843150..64845918-chr16:64868153..64870678,2	MCF-7	breast:
2	chr16:64843150..64845918-chr16:64868153..64870678,2	MCF-7	breast:
3	chr16:64816090..64817744-chr16:64821507..64824110,2	MCF-7	breast:
4	chr16:64816090..64817744-chr16:64821507..64824110,2	MCF-7	breast:

Extended variants
information (count: 825 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534574505	chr16:64825229-64825230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375244295	chr16:64825271-64825272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190739069	chr16:64825310-64825311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533565966	chr16:64825322-64825323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530096218	chr16:64825367-64825368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369577264	chr16:64825440-64825441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557334978	chr16:64825443-64825444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183311036	chr16:64825464-64825465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539649488	chr16:64825466-64825467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375270645	chr16:64825467-64825468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561284332	chr16:64825471-64825472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16967877	chr16:64825472-64825473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs561122472	chr16:64825485-64825486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574531627	chr16:64825527-64825528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543666712	chr16:64825559-64825560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369186566	chr16:64825622-64825623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187739797	chr16:64825710-64825711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1862769	chr16:64825733-64825734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs377633840	chr16:64825753-64825754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17410049	chr16:64825766-64825767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556312709	chr16:64825850-64825851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559928640	chr16:64825895-64825896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17410111	chr16:64825934-64825935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1424001	chr16:64825944-64825945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143046934	chr16:64825967-64825968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200635970	chr16:64825971-64825972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35364094	chr16:64825972-64825973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77066753	chr16:64825973-64825974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567955666	chr16:64826005-64826006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1862770	chr16:64826009-64826010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs550849535	chr16:64826037-64826038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565257358	chr16:64826082-64826083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193278061	chr16:64826091-64826092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374130732	chr16:64826106-64826107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77484614	chr16:64826280-64826281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113020157	chr16:64826289-64826290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566704820	chr16:64826299-64826300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184130206	chr16:64826316-64826317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144492719	chr16:64826388-64826389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141525034	chr16:64826399-64826400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574443602	chr16:64826401-64826402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113753700	chr16:64826406-64826407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569787527	chr16:64826443-64826444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557195284	chr16:64826444-64826445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577103168	chr16:64826456-64826457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546506419	chr16:64826515-64826516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77891195	chr16:64826536-64826537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541422365	chr16:64826559-64826560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541522044	chr16:64826560-64826561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370744678	chr16:64826562-64826563	Enhancers	n/a	n/a	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Cancer	17440070	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64825200-64826400	Enhancers	Osteobl	bone
2	chr16:64825400-64826400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:64825400-64826800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:64825600-64826400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:64836400-64837200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:64837200-64842200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:64837600-64838000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:64842200-64843200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:64842400-64842800	Enhancers	Fetal Muscle Leg	muscle
10	chr16:64842400-64843000	Enhancers	Fetal Stomach	stomach
11	chr16:64843200-64847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:64843400-64844400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:64843600-64844600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:64843800-64844400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:64847600-64848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:64847800-64848400	Enhancers	Osteobl	bone
17	chr16:64854200-64854600	Enhancers	Brain Hippocampus Middle	brain
18	chr16:64854200-64854600	Enhancers	Osteobl	bone
19	chr16:64854200-64855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:64854400-64854800	Enhancers	Brain Substantia Nigra	brain
21	chr16:64855800-64857400	Enhancers	HSMMtube	muscle
22	chr16:64856400-64857600	Enhancers	Aorta	Aorta
23	chr16:64856800-64858200	Enhancers	Fetal Muscle Leg	muscle
24	chr16:64857400-64858200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr16:64857600-64858600	Weak transcription	Aorta	Aorta
26	chr16:64858600-64858800	Enhancers	Aorta	Aorta
27	chr16:64859400-64862200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:64860200-64861000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:64860400-64860600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:64860600-64860800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:64860600-64861200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:64860800-64862200	Enhancers	Osteobl	bone
33	chr16:64860800-64865000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:64861000-64864200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:64861200-64862200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:64861600-64862400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:64862200-64863600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:64862200-64864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:64862400-64863000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:64863000-64865600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:64863600-64865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr16:64864200-64865200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr16:64864400-64865000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:64864800-64865200	Enhancers	Brain Substantia Nigra	brain
45	chr16:64865000-64865600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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