Variant report

Variant	nsv457559
Chromosome Location	chr16:80498094-80507621
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
2	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
3	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
4	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
5	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
6	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
7	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
8	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
9	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
10	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
11	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
12	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
13	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
14	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
15	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
16	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
17	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:

No data

Extended variants
information (count: 337 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7189522	chr16:80498094-80498095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552311320	chr16:80498104-80498105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560489584	chr16:80498106-80498107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570516089	chr16:80498113-80498114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374857463	chr16:80498146-80498147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553916784	chr16:80498148-80498149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534628028	chr16:80498165-80498166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369552020	chr16:80498222-80498223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146685990	chr16:80498227-80498228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182618506	chr16:80498252-80498253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35616749	chr16:80498256-80498257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73572347	chr16:80498273-80498274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542280258	chr16:80498279-80498280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575470494	chr16:80498285-80498286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372549559	chr16:80498296-80498297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545947971	chr16:80498300-80498301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71398197	chr16:80498307-80498308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572973428	chr16:80498318-80498319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555896484	chr16:80498340-80498341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150443636	chr16:80498349-80498350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562145615	chr16:80498366-80498367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4888089	chr16:80498420-80498421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs4243201	chr16:80498486-80498487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533362077	chr16:80498513-80498514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563534391	chr16:80498566-80498567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117945266	chr16:80498585-80498586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541676368	chr16:80498595-80498596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117377676	chr16:80498616-80498617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77915140	chr16:80498621-80498622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528225726	chr16:80498640-80498641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546358618	chr16:80498650-80498651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145412727	chr16:80498675-80498676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535093693	chr16:80498682-80498683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557238320	chr16:80498696-80498697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9939402	chr16:80498722-80498723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569258720	chr16:80498726-80498727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539666813	chr16:80498748-80498749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557896429	chr16:80498749-80498750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186897946	chr16:80498779-80498780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540747505	chr16:80498783-80498784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555570594	chr16:80498818-80498819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4888090	chr16:80498849-80498850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544233699	chr16:80498856-80498857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563597591	chr16:80498870-80498871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72820457	chr16:80498876-80498877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72820459	chr16:80498879-80498880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564303096	chr16:80498892-80498893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528268735	chr16:80498901-80498902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546714569	chr16:80498905-80498906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4888091	chr16:80498910-80498911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80492400-80502600	Enhancers	Liver	Liver
2	chr16:80494600-80500000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:80494600-80500200	Weak transcription	Osteobl	bone
4	chr16:80494800-80498400	Enhancers	Stomach Mucosa	stomach
5	chr16:80495000-80501200	Enhancers	Fetal Intestine Large	intestine
6	chr16:80495200-80498400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:80495400-80500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:80495800-80500800	Enhancers	Fetal Intestine Small	intestine
9	chr16:80496400-80498400	Enhancers	Duodenum Mucosa	Duodenum
10	chr16:80496600-80498400	Enhancers	HepG2	liver
11	chr16:80497200-80498200	Enhancers	Fetal Kidney	kidney
12	chr16:80497600-80498200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:80498000-80499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:80498000-80500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:80498200-80500600	Weak transcription	Fetal Kidney	kidney
16	chr16:80498400-80499000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:80498400-80499800	Weak transcription	HepG2	liver
18	chr16:80498400-80500000	Weak transcription	Stomach Mucosa	stomach
19	chr16:80498400-80500200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:80498600-80499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr16:80498600-80499200	Enhancers	HMEC	breast
22	chr16:80499000-80499200	Enhancers	NHEK	skin
23	chr16:80499000-80500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:80499200-80500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr16:80499200-80500200	Weak transcription	HMEC	breast
26	chr16:80499200-80500200	Weak transcription	NHEK	skin
27	chr16:80499400-80499800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr16:80499400-80500000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr16:80499400-80500800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:80499600-80499800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr16:80499600-80499800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr16:80499600-80499800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr16:80499600-80499800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr16:80499600-80499800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr16:80499600-80500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr16:80499600-80500000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr16:80499600-80500800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:80499800-80500000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr16:80499800-80500200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr16:80499800-80500200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr16:80499800-80500400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr16:80499800-80500600	Flanking Active TSS	HepG2	liver
43	chr16:80499800-80500800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr16:80499800-80500800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr16:80499800-80500800	Enhancers	Brain Germinal Matrix	brain
46	chr16:80499800-80501000	Enhancers	GM12878-XiMat	blood
47	chr16:80499800-80501200	Enhancers	Primary B cells from peripheral blood	blood
48	chr16:80500000-80500200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr16:80500000-80500200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:80500000-80500200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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