Variant report

Variant	nsv1808
Chromosome Location	chr16:52214779-52247196
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:52225598..52226132-chr16:52946181..52946968,2	K562	blood:
2	chr16:52225491..52226074-chr16:52946202..52947099,3	MCF-7	breast:
3	chr16:52101791..52102576-chr16:52225119..52226029,2	MCF-7	breast:
4	chr16:52225163..52225916-chr16:52946199..52946919,2	MCF-7	breast:
5	chr16:52225285..52225970-chr16:52895207..52896160,2	MCF-7	breast:
6	chr16:52225165..52225998-chr16:53056108..53056853,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-152O14.2.1-3	chr16:52231924-52232421	ENSG00000260975.1

No data

Extended variants
information (count: 856 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544484150	chr16:52214878-52214879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201064161	chr16:52214915-52214916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199791362	chr16:52214917-52214918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371463146	chr16:52214919-52214920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559248517	chr16:52214921-52214922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs66923313	chr16:52214922-52214923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376980946	chr16:52214937-52214938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533753987	chr16:52214942-52214943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533768290	chr16:52214968-52214969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138979547	chr16:52214998-52214999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1465328	chr16:52215014-52215015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532060224	chr16:52215053-52215054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552143547	chr16:52215109-52215110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75318754	chr16:52215145-52215146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2540702	chr16:52215172-52215173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538114048	chr16:52215176-52215177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527591277	chr16:52215211-52215212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556047734	chr16:52215265-52215266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13335560	chr16:52215273-52215274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376369224	chr16:52215329-52215330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533991440	chr16:52215345-52215346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553096846	chr16:52215361-52215362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573277190	chr16:52215391-52215392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539499354	chr16:52215392-52215393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113691811	chr16:52215449-52215450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558866027	chr16:52215455-52215456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557825168	chr16:52215498-52215499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2077831	chr16:52215518-52215519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561550071	chr16:52215528-52215529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530349770	chr16:52215531-52215532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145278424	chr16:52215535-52215536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557320570	chr16:52215601-52215602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74017212	chr16:52215609-52215610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181105057	chr16:52215632-52215633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185203392	chr16:52215647-52215648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71703758	chr16:52215655-52215656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2387547	chr16:52215657-52215658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2387548	chr16:52215658-52215659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2892309	chr16:52215659-52215660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568799551	chr16:52215695-52215696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1073797	chr16:52215738-52215739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75296692	chr16:52215744-52215745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572896192	chr16:52215814-52215815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137870798	chr16:52215843-52215844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533777256	chr16:52215887-52215888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142477619	chr16:52215902-52215903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78673235	chr16:52215937-52215938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116756939	chr16:52215946-52215947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558696832	chr16:52215967-52215968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188111909	chr16:52216006-52216007	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Retinoblastoma	19183342	CNVD
Myelofibrosis	22110671	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52207200-52215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:52212800-52219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:52214200-52219600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:52219600-52220400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:52219800-52220200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:52223400-52225200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:52225400-52225600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:52225400-52225600	Enhancers	Liver	Liver
9	chr16:52225600-52226200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:52225600-52226400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:52225600-52226600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:52225600-52226600	Weak transcription	Liver	Liver
13	chr16:52225800-52226200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:52225800-52226200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:52225800-52226200	Enhancers	Stomach Mucosa	stomach
16	chr16:52225800-52226400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:52225800-52226600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:52226200-52226400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:52226200-52226600	Enhancers	Fetal Brain Male	brain
20	chr16:52226200-52227200	Weak transcription	Stomach Mucosa	stomach
21	chr16:52226600-52227600	Enhancers	Liver	Liver
22	chr16:52227000-52227600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:52227200-52227400	Enhancers	Stomach Mucosa	stomach
24	chr16:52227200-52227600	Enhancers	HepG2	liver
25	chr16:52235200-52235600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:52236400-52237200	Enhancers	NHEK	skin
27	chr16:52236400-52237800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:52236400-52238600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:52237200-52237400	Flanking Active TSS	NHEK	skin
30	chr16:52237200-52237600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr16:52237400-52237600	Enhancers	NHEK	skin
32	chr16:52237600-52237800	Flanking Active TSS	NHEK	skin
33	chr16:52237800-52238000	Enhancers	NHEK	skin
34	chr16:52239400-52243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:52243000-52243200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:52243200-52243800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:52243200-52247800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:52243800-52247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:52246400-52247000	Enhancers	Fetal Kidney	kidney
40	chr16:52247000-52252200	Weak transcription	Fetal Kidney	kidney

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