Variant report

Variant	nsv573299
Chromosome Location	chr16:80493705-80503421
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

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

No data

Extended variants
information (count: 566 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11150282	chr16:80493705-80493706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569777242	chr16:80493716-80493717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537243472	chr16:80493751-80493752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191383897	chr16:80493775-80493776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576968650	chr16:80493777-80493778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541051542	chr16:80493786-80493787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554830761	chr16:80493793-80493794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376973070	chr16:80493799-80493800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552970972	chr16:80493838-80493839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4888088	chr16:80493887-80493888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542188326	chr16:80493904-80493905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564006162	chr16:80493917-80493918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145246303	chr16:80493924-80493925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147190500	chr16:80493934-80493935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184939671	chr16:80493939-80493940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140638028	chr16:80493942-80493943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371214556	chr16:80493970-80493971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561778065	chr16:80493971-80493972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189272356	chr16:80493988-80493989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112164079	chr16:80494048-80494049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs1384994	chr16:80494053-80494054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144498379	chr16:80494068-80494069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs552323840	chr16:80494070-80494071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs151212856	chr16:80494076-80494077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545745940	chr16:80494086-80494087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559807027	chr16:80494097-80494098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528546326	chr16:80494114-80494115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542033250	chr16:80494115-80494116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534744407	chr16:80494126-80494127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553083438	chr16:80494128-80494129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574532269	chr16:80494134-80494135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574553168	chr16:80494159-80494160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs117510118	chr16:80494181-80494182	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73572327	chr16:80494195-80494196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116879546	chr16:80494216-80494217	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370750692	chr16:80494218-80494219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs199807016	chr16:80494230-80494231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114309359	chr16:80494259-80494260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200896632	chr16:80494262-80494263	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113471041	chr16:80494276-80494277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564303343	chr16:80494290-80494291	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73572329	chr16:80494294-80494295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368196433	chr16:80494305-80494306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74748927	chr16:80494306-80494307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561841760	chr16:80494329-80494330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529282450	chr16:80494341-80494342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192246431	chr16:80494346-80494347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs140113516	chr16:80494366-80494367	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4889149	chr16:80494374-80494375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs552484124	chr16:80494400-80494401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

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:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80491400-80494000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:80491400-80494000	Weak transcription	Right Atrium	heart
3	chr16:80492400-80502600	Enhancers	Liver	Liver
4	chr16:80492600-80494200	Enhancers	Fetal Muscle Leg	muscle
5	chr16:80492600-80494600	Enhancers	Osteobl	bone
6	chr16:80492600-80495800	Weak transcription	Fetal Intestine Small	intestine
7	chr16:80492800-80494600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:80492800-80495000	Weak transcription	Fetal Intestine Large	intestine
9	chr16:80493000-80493800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:80493000-80494600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:80493000-80495400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr16:80493200-80494200	Enhancers	Ovary	ovary
13	chr16:80493200-80497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:80494000-80494200	Enhancers	Right Atrium	heart
15	chr16:80494000-80494600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:80494600-80495200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:80494600-80500000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:80494600-80500200	Weak transcription	Osteobl	bone
19	chr16:80494800-80498400	Enhancers	Stomach Mucosa	stomach
20	chr16:80495000-80501200	Enhancers	Fetal Intestine Large	intestine
21	chr16:80495200-80498400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:80495400-80500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:80495800-80500800	Enhancers	Fetal Intestine Small	intestine
24	chr16:80496400-80496600	Bivalent Enhancer	HepG2	liver
25	chr16:80496400-80498400	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:80496600-80498400	Enhancers	HepG2	liver
27	chr16:80497200-80498200	Enhancers	Fetal Kidney	kidney
28	chr16:80497600-80497800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:80497600-80497800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr16:80497600-80498000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:80497600-80498200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr16:80498000-80499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:80498000-80500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:80498200-80500600	Weak transcription	Fetal Kidney	kidney
35	chr16:80498400-80499000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:80498400-80499800	Weak transcription	HepG2	liver
37	chr16:80498400-80500000	Weak transcription	Stomach Mucosa	stomach
38	chr16:80498400-80500200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr16:80498600-80499200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr16:80498600-80499200	Enhancers	HMEC	breast
41	chr16:80499000-80499200	Enhancers	NHEK	skin
42	chr16:80499000-80500200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:80499200-80500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:80499200-80500200	Weak transcription	HMEC	breast
45	chr16:80499200-80500200	Weak transcription	NHEK	skin
46	chr16:80499400-80499800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr16:80499400-80500000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr16:80499400-80500800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:80499600-80499800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr16:80499600-80499800	Enhancers	H9 Cell Line	embryonic stem cell

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