Variant report

Variant	nsv1055975
Chromosome Location	chr16:80437861-80513030
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
2	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
3	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
4	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
5	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
6	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
7	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
8	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
9	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:
10	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
11	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
12	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
13	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
14	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
15	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
16	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
17	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
18	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
19	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
20	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
21	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
22	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
23	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
24	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
25	chr16:80511850..80513590-chr16:80513897..80516256,2	K562	blood:
26	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
27	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
28	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
29	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
30	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
31	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
32	chr16:80508458..80510369-chr16:80517699..80519850,2	MCF-7	breast:
33	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
34	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
35	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
36	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
37	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
38	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
39	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:

No data

Extended variants
information (count: 3185 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3185 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573571447	chr16:80437862-80437863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544010145	chr16:80437870-80437871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555893359	chr16:80437872-80437873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544453699	chr16:80437900-80437901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555827775	chr16:80437902-80437903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9938867	chr16:80437914-80437915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78741723	chr16:80437927-80437928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559974575	chr16:80437944-80437945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367939237	chr16:80437948-80437949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146012659	chr16:80437960-80437961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542614413	chr16:80437973-80437974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138669520	chr16:80437978-80437979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532004785	chr16:80437998-80437999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550401797	chr16:80438006-80438007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372002608	chr16:80438041-80438042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575463961	chr16:80438073-80438074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202052489	chr16:80438083-80438084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571859892	chr16:80438100-80438101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183248829	chr16:80438101-80438102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115175741	chr16:80438118-80438119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375025575	chr16:80438179-80438180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188266104	chr16:80438190-80438191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141883048	chr16:80438191-80438192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567226328	chr16:80438193-80438194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537794144	chr16:80438194-80438195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577918275	chr16:80438214-80438215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556174448	chr16:80438229-80438230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146267202	chr16:80438247-80438248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114122528	chr16:80438295-80438296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553851685	chr16:80438339-80438340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540890377	chr16:80438347-80438348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572009121	chr16:80438359-80438360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542657261	chr16:80438366-80438367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148472342	chr16:80438372-80438373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142520570	chr16:80438373-80438374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372757256	chr16:80438378-80438379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573961874	chr16:80438379-80438380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542781843	chr16:80438381-80438382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150496604	chr16:80438393-80438394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565424587	chr16:80438396-80438397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139520212	chr16:80438397-80438398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547648658	chr16:80438402-80438403	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559813783	chr16:80438440-80438441	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530089132	chr16:80438466-80438467	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376014210	chr16:80438467-80438468	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572668555	chr16:80438472-80438473	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569754716	chr16:80438488-80438489	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144297100	chr16:80438498-80438499	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147942251	chr16:80438520-80438521	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531576752	chr16:80438531-80438532	Active TSS Enhancers Weak transcription	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:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80437400-80440600	Enhancers	HepG2	liver
2	chr16:80437400-80442800	Enhancers	Fetal Kidney	kidney
3	chr16:80437600-80438800	Weak transcription	Ovary	ovary
4	chr16:80438400-80438800	Active TSS	Liver	Liver
5	chr16:80438800-80439200	Flanking Active TSS	Liver	Liver
6	chr16:80438800-80439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:80439000-80439200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:80439000-80439200	Enhancers	Ovary	ovary
9	chr16:80439200-80439400	Enhancers	Liver	Liver
10	chr16:80439400-80440400	Weak transcription	Liver	Liver
11	chr16:80440000-80440200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr16:80440200-80440800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr16:80440400-80440800	Enhancers	Liver	Liver
14	chr16:80440600-80442000	Flanking Active TSS	HepG2	liver
15	chr16:80440800-80441200	Flanking Active TSS	Liver	Liver
16	chr16:80440800-80441800	Enhancers	Fetal Intestine Small	intestine
17	chr16:80440800-80441800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr16:80441200-80443000	Enhancers	Liver	Liver
19	chr16:80441800-80442000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:80442000-80444200	Enhancers	HepG2	liver
21	chr16:80444200-80447800	Weak transcription	HepG2	liver
22	chr16:80447800-80448600	Enhancers	HepG2	liver
23	chr16:80448600-80449000	Weak transcription	HepG2	liver
24	chr16:80449000-80449200	Enhancers	HepG2	liver
25	chr16:80449200-80451600	Weak transcription	HepG2	liver
26	chr16:80451600-80451800	Enhancers	HepG2	liver
27	chr16:80451800-80452200	Weak transcription	HepG2	liver
28	chr16:80452200-80453400	Enhancers	HepG2	liver
29	chr16:80453400-80459400	Weak transcription	HepG2	liver
30	chr16:80455800-80456200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:80455800-80456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:80457000-80457200	Enhancers	Fetal Brain Female	brain
33	chr16:80457600-80460600	Weak transcription	Fetal Brain Female	brain
34	chr16:80459400-80460800	Enhancers	HepG2	liver
35	chr16:80460400-80461000	Enhancers	Fetal Kidney	kidney
36	chr16:80460600-80462800	Enhancers	Fetal Brain Male	brain
37	chr16:80460600-80462800	Enhancers	Fetal Brain Female	brain
38	chr16:80461000-80464600	Weak transcription	Fetal Kidney	kidney
39	chr16:80467000-80468400	Enhancers	HMEC	breast
40	chr16:80467200-80468400	Enhancers	NHEK	skin
41	chr16:80467400-80468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:80467400-80468200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:80467400-80468400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:80468200-80471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:80470400-80470600	Weak transcription	Fetal Kidney	kidney
48	chr16:80470600-80470800	Enhancers	Fetal Kidney	kidney
49	chr16:80470800-80476400	Weak transcription	Fetal Kidney	kidney
50	chr16:80471000-80471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links