Variant report

Variant	nsv528716
Chromosome Location	chr16:75922170-75997350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
2	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
3	chr1:90287489..90288189-chr16:75942151..75942717,2	MCF-7	breast:
4	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
5	chr16:75967179..75969484-chr17:4845937..4847850,2	MCF-7	breast:
6	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
7	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
8	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
9	chr16:75905192..75908062-chr16:75922161..75923851,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108523	chromatin interactions

Extended variants
information (count: 2565 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2565 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12928076	chr16:75936826-75936827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555422278	chr16:75936860-75936861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559407644	chr16:75936867-75936868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572577222	chr16:75936880-75936881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377429950	chr16:75936937-75936938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111845374	chr16:75936945-75936946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535239650	chr16:75936985-75936986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558032180	chr16:75937003-75937004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34058731	chr16:75937043-75937044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577922419	chr16:75937150-75937151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186087778	chr16:75937260-75937261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189906710	chr16:75937339-75937340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573683799	chr16:75937341-75937342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28453323	chr16:75937393-75937394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377232619	chr16:75937400-75937401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370141919	chr16:75937410-75937411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368309067	chr16:75937419-75937420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568960217	chr16:75937440-75937441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557802054	chr16:75937441-75937442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369386740	chr16:75937446-75937447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182572763	chr16:75937452-75937453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373655885	chr16:75937489-75937490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116580044	chr16:75937516-75937517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200895819	chr16:75937625-75937626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564225235	chr16:75937684-75937685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533311675	chr16:75937709-75937710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11644065	chr16:75937735-75937736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578087025	chr16:75937751-75937752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187176815	chr16:75937791-75937792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs118056433	chr16:75937800-75937801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372888046	chr16:75937801-75937802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28552504	chr16:75937838-75937839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs377620378	chr16:75937878-75937879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375735515	chr16:75937892-75937893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548672188	chr16:75937908-75937909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565779978	chr16:75937910-75937911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191983672	chr16:75937926-75937927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558378839	chr16:75937929-75937930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183169246	chr16:75937941-75937942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537384740	chr16:75937975-75937976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4640219	chr16:75937986-75937987	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370935605	chr16:75937998-75937999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189035575	chr16:75938018-75938019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540017847	chr16:75938044-75938045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374549230	chr16:75938048-75938049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556626783	chr16:75938079-75938080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570294828	chr16:75938101-75938102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574150800	chr16:75938114-75938115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539033547	chr16:75938115-75938116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201008314	chr16:75938129-75938130	Enhancers Weak transcription	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:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75936800-75937400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:75937000-75938200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:75937000-75938200	Enhancers	HMEC	breast
4	chr16:75937200-75938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:75937600-75938200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:75937800-75938200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:75938000-75943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:75938200-75943000	Weak transcription	HMEC	breast
9	chr16:75942600-75943400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr16:75942800-75943200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:75942800-75943200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr16:75942800-75943400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:75942800-75943400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr16:75942800-75943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:75942800-75944000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr16:75943000-75943400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:75943000-75944800	Enhancers	HMEC	breast
18	chr16:75943200-75944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:75944800-75946000	Weak transcription	HMEC	breast
20	chr16:75945800-75946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:75946000-75946200	Enhancers	HMEC	breast
22	chr16:75946200-75946400	Weak transcription	HMEC	breast
23	chr16:75946400-75952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:75947400-75947800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:75947800-75955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:75949000-75949200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr16:75950400-75950800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:75950800-75952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:75951000-75951200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr16:75951400-75952600	Enhancers	Fetal Lung	lung
31	chr16:75952000-75952600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:75952000-75954400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:75952200-75952600	Enhancers	Brain Hippocampus Middle	brain
34	chr16:75952400-75953600	Enhancers	Brain Substantia Nigra	brain
35	chr16:75952600-75953000	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:75952600-75953200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:75952600-75953800	Weak transcription	Fetal Lung	lung
38	chr16:75953000-75953200	Enhancers	Brain Hippocampus Middle	brain
39	chr16:75953200-75953400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr16:75953200-75954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:75953200-75954400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr16:75953400-75953600	Enhancers	Brain Anterior Caudate	brain
43	chr16:75953400-75953600	Enhancers	Brain Hippocampus Middle	brain
44	chr16:75953400-75954000	Enhancers	Adipose Nuclei	Adipose
45	chr16:75953600-75953800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr16:75953600-75954000	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr16:75953600-75954000	Enhancers	Brain Germinal Matrix	brain
48	chr16:75953600-75954200	Active TSS	Brain Cingulate Gyrus	brain
49	chr16:75953600-75954200	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr16:75953600-75954400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links