Variant report

Variant	nsv1063509
Chromosome Location	chr16:75955424-76029449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
4	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
5	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
6	chr16:75967179..75969484-chr17:4845937..4847850,2	MCF-7	breast:
7	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:

Variant related genes	Relation type
ENSG00000108523	chromatin interactions

Extended variants
information (count: 3403 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3403 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553040716	chr16:75955443-75955444	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187753766	chr16:75955444-75955445	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545628203	chr16:75955464-75955465	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374954109	chr16:75955484-75955485	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565331074	chr16:75955511-75955512	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576044187	chr16:75955528-75955529	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537247374	chr16:75955580-75955581	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544900880	chr16:75955660-75955661	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561538081	chr16:75955685-75955686	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545892153	chr16:75955699-75955700	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115389771	chr16:75955701-75955702	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145227065	chr16:75955710-75955711	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560639017	chr16:75955730-75955731	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532497163	chr16:75955745-75955746	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551586326	chr16:75955803-75955804	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147604273	chr16:75955911-75955912	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372511222	chr16:75955923-75955924	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13334488	chr16:75955974-75955975	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550475351	chr16:75955995-75955996	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567181269	chr16:75955997-75955998	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536245081	chr16:75956007-75956008	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142172093	chr16:75956049-75956050	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76037439	chr16:75956054-75956055	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59445759	chr16:75956055-75956056	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114588976	chr16:75956119-75956120	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559225153	chr16:75956120-75956121	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13334859	chr16:75956128-75956129	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544784572	chr16:75956188-75956189	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191286304	chr16:75956199-75956200	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372836835	chr16:75956233-75956234	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536272883	chr16:75956249-75956250	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57961261	chr16:75956285-75956286	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540670514	chr16:75956381-75956382	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545257189	chr16:75956387-75956388	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375011700	chr16:75956452-75956453	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150211775	chr16:75956501-75956502	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367673818	chr16:75956557-75956558	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368897818	chr16:75956558-75956559	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183826162	chr16:75956569-75956570	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138819638	chr16:75956602-75956603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562607560	chr16:75956626-75956627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527713273	chr16:75956660-75956661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550313065	chr16:75956779-75956780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567267328	chr16:75956829-75956830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529933774	chr16:75956836-75956837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550411521	chr16:75956885-75956886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117485032	chr16:75956911-75956912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566324959	chr16:75956916-75956917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538602709	chr16:75956918-75956919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372422792	chr16:75956959-75956960	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:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75954400-75955600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr16:75954400-75958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:75955000-75955800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr16:75955000-75956200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:75955200-75955600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
6	chr16:75955400-75955600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr16:75955400-75955600	Enhancers	Ovary	ovary
8	chr16:75955400-75956000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr16:75955600-75955800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr16:75955600-75956600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr16:75955800-75956200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr16:75956200-75956400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr16:75956200-75956400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr16:75958400-75958800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:75958800-75961400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:75961400-75961600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr16:75961400-75961600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr16:75961400-75961800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr16:75961400-75962000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:75961400-75963200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:75961600-75961800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr16:75961600-75961800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr16:75961600-75961800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr16:75961800-75963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:75962000-75962200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:75962000-75962200	Enhancers	HMEC	breast
27	chr16:75962200-75964400	Weak transcription	HMEC	breast
28	chr16:75963000-75963200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:75963200-75964200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:75963200-75964400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:75963200-75964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:75964200-75964600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr16:75964200-75965600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:75964400-75965600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:75964400-75965600	Enhancers	HMEC	breast
36	chr16:75964400-75965800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:75965200-75965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:75972000-75973600	Enhancers	HMEC	breast
39	chr16:75972400-75972800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:75972600-75973200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:75972800-75973200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:75972800-75973400	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:75972800-75973600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:75973000-75973200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr16:75973200-75978800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr16:75973200-75991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:75973400-75975000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr16:75974400-75974600	Enhancers	Fetal Intestine Large	intestine
49	chr16:75974800-75975800	Weak transcription	Fetal Intestine Large	intestine
50	chr16:75975000-75975600	Enhancers	Brain Anterior Caudate	brain

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