Variant report

Variant	nsv827651
Chromosome Location	chr16:52304029-52373509
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:2)
LncRNA
region (count:43)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:52318984..52320748-chr16:52324121..52325841,2	K562	blood:
2	chr16:52318984..52320748-chr16:52324121..52325841,2	K562	blood:

(count:43 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD9-5	chr16:52307024-52307131	XLOC_011724
2	lnc-CHD9-5	chr16:52305432-52305782	XLOC_011724
3	lnc-CHD9-5	chr16:52307614-52307995	XLOC_011724
4	lnc-CHD9-5	chr16:52305432-52305782	XLOC_011724
5	lnc-CHD9-5	chr16:52313928-52314343	XLOC_011724
6	lnc-TOX3-3	chr16:52333721-52333778	XLOC_011942
7	lnc-CHD9-5	chr16:52313521-52313602	NONHSAT142523
8	lnc-CHD9-5	chr16:52306977-52307131	XLOC_011724
9	lnc-CHD9-5	chr16:52307024-52307131	NONHSAT142523
10	lnc-CHD9-5	chr16:52313521-52313602	XLOC_011724
11	lnc-CHD9-5	chr16:52305507-52305782	XLOC_011724
12	lnc-CHD9-5	chr16:52313521-52313602	XLOC_011724
13	lnc-CHD9-5	chr16:52313928-52314051	XLOC_011724
14	lnc-CHD9-5	chr16:52313521-52313602	XLOC_011724
15	lnc-CHD9-5	chr16:52313928-52314210	NONHSAT142523
16	lnc-CHD9-5	chr16:52313521-52313602	ENSG00000260887.1
17	lnc-CHD9-5	chr16:52305432-52305782	XLOC_011724
18	lnc-CHD9-5	chr16:52305597-52305782	NONHSAT142523
19	lnc-CHD9-5	chr16:52313928-52314661	XLOC_011724
20	lnc-CHD9-5	chr16:52307024-52307131	XLOC_011724
21	lnc-CHD9-5	chr16:52313509-52313602	XLOC_011724
22	lnc-CHD9-5	chr16:52313521-52313602	XLOC_011724
23	lnc-CHD9-5	chr16:52313928-52314211	ENSG00000260887.1
24	lnc-CHD9-5	chr16:52305431-52307131	NONHSAT142514
25	lnc-TOX3-3	chr16:52330608-52331752	XLOC_011942
26	lnc-CHD9-5	chr16:52305528-52307131	XLOC_011724
27	lnc-CHD9-5	chr16:52307024-52307131	XLOC_011724
28	lnc-TOX3-3	chr16:52333721-52333778	XLOC_011942
29	lnc-CHD9-5	chr16:52305528-52306077	NONHSAT142521
30	lnc-CHD9-5	chr16:52305507-52305782	XLOC_011724
31	lnc-CHD9-5	chr16:52313927-52314661	NONHSAT142514
32	lnc-CHD9-5	chr16:52305507-52305782	XLOC_011724
33	lnc-CHD9-5	chr16:52313509-52313602	XLOC_011724
34	lnc-TOX3-3	chr16:52331252-52331752	XLOC_011942
35	lnc-CHD9-5	chr16:52313928-52314051	XLOC_011724
36	lnc-CHD9-5	chr16:52307613-52307995	NONHSAT142514
37	lnc-CHD9-5	chr16:52313928-52314189	XLOC_011724
38	lnc-CHD9-5	chr16:52313928-52314201	XLOC_011724
39	lnc-CHD9-5	chr16:52307614-52307995	XLOC_011724
40	lnc-CHD9-5	chr16:52306977-52307131	XLOC_011724
41	lnc-CHD9-5	chr16:52309380-52309438	NONHSAT142514
42	lnc-CHD9-5	chr16:52309381-52309438	XLOC_011724
43	lnc-CHD9-5	chr16:52313314-52313602	NONHSAT142514

No data

Variant related genes	Relation type
SMAD5	miRNA target sites
SYNC	miRNA target sites
RHOG	miRNA target sites
MYCBP	miRNA target sites
MYCN	miRNA target sites
PRRX1	miRNA target sites
BMPR2	miRNA target sites

Extended variants
information (count: 1668 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1668 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569143058	chr16:52304039-52304040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370247419	chr16:52304071-52304072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531483075	chr16:52304088-52304089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552297559	chr16:52304095-52304096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150515237	chr16:52304102-52304103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570530099	chr16:52304106-52304107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533698417	chr16:52304110-52304111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139437457	chr16:52304152-52304153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60064667	chr16:52304179-52304180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538690499	chr16:52304233-52304234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369262130	chr16:52304264-52304265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558666792	chr16:52304289-52304290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574952258	chr16:52304293-52304294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575923868	chr16:52304310-52304311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544602769	chr16:52304411-52304412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555211491	chr16:52304416-52304417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545729317	chr16:52304451-52304452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575096727	chr16:52304474-52304475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373220531	chr16:52304492-52304493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560337313	chr16:52304521-52304522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576996998	chr16:52304527-52304528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190403030	chr16:52304558-52304559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542089603	chr16:52304567-52304568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563359504	chr16:52304586-52304587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112522381	chr16:52304600-52304601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531301078	chr16:52304603-52304604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534851285	chr16:52304617-52304618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76434121	chr16:52304643-52304644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193298425	chr16:52304675-52304676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143195057	chr16:52304684-52304685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576181388	chr16:52304689-52304690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34252652	chr16:52304691-52304692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77980174	chr16:52304732-52304733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547183617	chr16:52304835-52304836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566661315	chr16:52304843-52304844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144313880	chr16:52304856-52304857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184308843	chr16:52304893-52304894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564078643	chr16:52304899-52304900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546540723	chr16:52304911-52304912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147808081	chr16:52304931-52304932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554967815	chr16:52304949-52304950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575208386	chr16:52304959-52304960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139553266	chr16:52304972-52304973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554385306	chr16:52304981-52304982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577484905	chr16:52305001-52305002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545595999	chr16:52305014-52305015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568033166	chr16:52305028-52305029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541118568	chr16:52305067-52305068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189592211	chr16:52305101-52305102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369939886	chr16:52305130-52305131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52300200-52304400	Weak transcription	Fetal Brain Male	brain
2	chr16:52300800-52305000	Weak transcription	Brain Germinal Matrix	brain
3	chr16:52301400-52304400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:52301600-52304800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:52301800-52304600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:52301800-52305200	Weak transcription	Fetal Kidney	kidney
7	chr16:52302200-52304800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:52304400-52305200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:52304400-52305400	Enhancers	Fetal Brain Female	brain
10	chr16:52304400-52305800	Enhancers	Fetal Brain Male	brain
11	chr16:52304400-52306000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:52304400-52306800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:52304600-52306400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:52304800-52305400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:52304800-52306400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:52305000-52305400	Enhancers	Fetal Stomach	stomach
17	chr16:52305000-52305600	Enhancers	Brain Germinal Matrix	brain
18	chr16:52305000-52305800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:52305200-52305600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:52305400-52306400	Weak transcription	Fetal Stomach	stomach
21	chr16:52305600-52306800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:52306400-52307000	Enhancers	Fetal Stomach	stomach
23	chr16:52313400-52316000	Enhancers	Fetal Brain Male	brain
24	chr16:52313600-52313800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
25	chr16:52315000-52315600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:52316600-52319200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr16:52317400-52317800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:52317400-52317800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:52317600-52318200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:52318200-52318800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr16:52318600-52319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:52319400-52323800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:52325400-52327200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:52326200-52326600	Enhancers	NHEK	skin
35	chr16:52326600-52327400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr16:52327200-52327400	Enhancers	HepG2	liver
37	chr16:52327400-52328000	Weak transcription	HepG2	liver
38	chr16:52327400-52329600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:52327400-52331600	Enhancers	Liver	Liver
40	chr16:52328000-52331600	Enhancers	HepG2	liver
41	chr16:52328200-52328600	Enhancers	Fetal Intestine Large	intestine
42	chr16:52329400-52330000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:52329600-52329800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr16:52329600-52330000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr16:52329600-52330400	Enhancers	Adipose Nuclei	Adipose
46	chr16:52329800-52330400	Enhancers	Stomach Mucosa	stomach
47	chr16:52331600-52332400	Weak transcription	HepG2	liver
48	chr16:52332400-52333200	Enhancers	HepG2	liver
49	chr16:52334200-52334400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:52334200-52334600	Enhancers	Fetal Brain Male	brain

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