Variant report

Variant	nsv1059462
Chromosome Location	chr16:75950991-75989290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75967179..75969484-chr17:4845937..4847850,2	MCF-7	breast:
2	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
3	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
4	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
5	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
6	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
7	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108523	chromatin interactions

Extended variants
information (count: 1523 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8052537	chr16:75950991-75950992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567271412	chr16:75951003-75951004	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs145644326	chr16:75951013-75951014	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs183010666	chr16:75951033-75951034	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572778246	chr16:75951077-75951078	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538225560	chr16:75951082-75951083	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs558631463	chr16:75951112-75951113	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs74907117	chr16:75951122-75951123	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs544820155	chr16:75951203-75951204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376616301	chr16:75951207-75951208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187964986	chr16:75951262-75951263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369821517	chr16:75951305-75951306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148873027	chr16:75951319-75951320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540912428	chr16:75951373-75951374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560499762	chr16:75951407-75951408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66536769	chr16:75951428-75951429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538874106	chr16:75951432-75951433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192966288	chr16:75951455-75951456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565887547	chr16:75951497-75951498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552248824	chr16:75951555-75951556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs59437437	chr16:75951565-75951566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2036206	chr16:75951570-75951571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116967910	chr16:75951582-75951583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182975209	chr16:75951627-75951628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72791320	chr16:75951630-75951631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567110542	chr16:75951631-75951632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536172632	chr16:75951647-75951648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377293349	chr16:75951674-75951675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377613445	chr16:75951732-75951733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566612554	chr16:75951764-75951765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534596519	chr16:75951765-75951766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369712979	chr16:75951779-75951780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558218246	chr16:75951797-75951798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376281570	chr16:75951820-75951821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575343456	chr16:75951834-75951835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373336460	chr16:75951907-75951908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537929091	chr16:75951927-75951928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555236502	chr16:75951930-75951931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573922579	chr16:75951939-75951940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575064336	chr16:75951948-75951949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540795908	chr16:75951973-75951974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554456648	chr16:75952012-75952013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542715220	chr16:75952019-75952020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546226388	chr16:75952020-75952021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558073780	chr16:75952024-75952025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187425777	chr16:75952063-75952064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532162187	chr16:75952069-75952070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531869552	chr16:75952123-75952124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562603180	chr16:75952145-75952146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577845744	chr16:75952187-75952188	Weak transcription Enhancers	n/a	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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75946400-75952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:75947800-75955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:75950800-75952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:75951000-75951200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr16:75951400-75952600	Enhancers	Fetal Lung	lung
6	chr16:75952000-75952600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:75952000-75954400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:75952200-75952600	Enhancers	Brain Hippocampus Middle	brain
9	chr16:75952400-75953600	Enhancers	Brain Substantia Nigra	brain
10	chr16:75952600-75953000	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:75952600-75953200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:75952600-75953800	Weak transcription	Fetal Lung	lung
13	chr16:75953000-75953200	Enhancers	Brain Hippocampus Middle	brain
14	chr16:75953200-75953400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr16:75953200-75954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:75953200-75954400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr16:75953400-75953600	Enhancers	Brain Anterior Caudate	brain
18	chr16:75953400-75953600	Enhancers	Brain Hippocampus Middle	brain
19	chr16:75953400-75954000	Enhancers	Adipose Nuclei	Adipose
20	chr16:75953600-75953800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr16:75953600-75954000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr16:75953600-75954000	Enhancers	Brain Germinal Matrix	brain
23	chr16:75953600-75954200	Active TSS	Brain Cingulate Gyrus	brain
24	chr16:75953600-75954200	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr16:75953600-75954400	Enhancers	Ovary	ovary
26	chr16:75953600-75954400	Enhancers	HMEC	breast
27	chr16:75953800-75954000	Enhancers	Fetal Lung	lung
28	chr16:75953800-75954200	Active TSS	Brain Hippocampus Middle	brain
29	chr16:75954000-75954200	Enhancers	Brain Anterior Caudate	brain
30	chr16:75954200-75954400	Enhancers	Brain Hippocampus Middle	brain
31	chr16:75954200-75954400	Enhancers	Brain Substantia Nigra	brain
32	chr16:75954400-75954600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr16:75954400-75954600	Active TSS	Brain Hippocampus Middle	brain
34	chr16:75954400-75955000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr16:75954400-75955400	Weak transcription	Ovary	ovary
36	chr16:75954400-75955600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr16:75954400-75958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:75954600-75955200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr16:75954600-75955400	Enhancers	Pancreas	Pancrea
40	chr16:75955000-75955200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:75955000-75955200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr16:75955000-75955200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr16:75955000-75955200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr16:75955000-75955800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr16:75955000-75956200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:75955200-75955400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr16:75955200-75955400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr16:75955200-75955400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr16:75955200-75955600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr16:75955400-75955600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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