Variant report

Variant	nsv1060858
Chromosome Location	chr16:77412262-77445161
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77428869..77431642-chr16:77432418..77434289,2	K562	blood:
2	chr16:77269912..77270651-chr16:77440233..77440965,2	MCF-7	breast:
3	chr16:77427682..77431642-chr16:77432418..77435564,3	K562	blood:
4	chr16:77364104..77366895-chr16:77412752..77415656,2	K562	blood:
5	chr16:77435097..77437524-chr16:77437651..77440031,2	K562	blood:
6	chr16:77435097..77437524-chr16:77437651..77440031,2	K562	blood:
7	chr16:77428869..77431642-chr16:77432418..77434289,2	K562	blood:
8	chr16:77427682..77431642-chr16:77432418..77435564,3	K562	blood:

No data

Extended variants
information (count: 1951 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1951 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544446269	chr16:77412262-77412263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563764230	chr16:77412303-77412304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115426156	chr16:77412314-77412315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7188978	chr16:77412325-77412326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565962542	chr16:77412330-77412331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528750807	chr16:77412340-77412341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs274528	chr16:77412346-77412347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6564439	chr16:77412349-77412350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191481901	chr16:77412364-77412365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371568915	chr16:77412376-77412377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182567547	chr16:77412432-77412433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140555996	chr16:77412438-77412439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535942905	chr16:77412441-77412442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13336195	chr16:77412448-77412449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs8047650	chr16:77412457-77412458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545021861	chr16:77412475-77412476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187078363	chr16:77412501-77412502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370785750	chr16:77412521-77412522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150443562	chr16:77412543-77412544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561067205	chr16:77412544-77412545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529379030	chr16:77412573-77412574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147810177	chr16:77412576-77412577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373568174	chr16:77412577-77412578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141219470	chr16:77412587-77412588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528457016	chr16:77412628-77412629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551801296	chr16:77412633-77412634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75135028	chr16:77412652-77412653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543854543	chr16:77412662-77412663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77302776	chr16:77412721-77412722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190762795	chr16:77412722-77412723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17687984	chr16:77412731-77412732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535909159	chr16:77412761-77412762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74025972	chr16:77412765-77412766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75166515	chr16:77412781-77412782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146939770	chr16:77412783-77412784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182995846	chr16:77412788-77412789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79190195	chr16:77412808-77412809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538160331	chr16:77412809-77412810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554770374	chr16:77412825-77412826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188065151	chr16:77412827-77412828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367761763	chr16:77412877-77412878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137881924	chr16:77412879-77412880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372116589	chr16:77412890-77412891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149449728	chr16:77412891-77412892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559352252	chr16:77412907-77412908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80276073	chr16:77412918-77412919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143192337	chr16:77412919-77412920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77032184	chr16:77412947-77412948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193002639	chr16:77412982-77412983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371911182	chr16:77412989-77412990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77409000-77416400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:77409200-77415200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:77409400-77417800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:77409400-77421000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:77409600-77421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:77410400-77413600	Weak transcription	Pancreas	Pancrea
7	chr16:77410600-77413800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:77413600-77414000	ZNF genes & repeats	Pancreas	Pancrea
9	chr16:77413800-77414000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:77413800-77414000	Enhancers	Brain Cingulate Gyrus	brain
11	chr16:77414000-77414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:77414000-77416600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:77414000-77416600	Weak transcription	Pancreas	Pancrea
14	chr16:77414400-77414600	Enhancers	Brain Substantia Nigra	brain
15	chr16:77414600-77418200	Weak transcription	Brain Substantia Nigra	brain
16	chr16:77414800-77417200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:77415200-77415400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr16:77415400-77420800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:77415800-77416000	Enhancers	Adipose Nuclei	Adipose
20	chr16:77416000-77420800	Weak transcription	Adipose Nuclei	Adipose
21	chr16:77416400-77416800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:77416600-77416800	Enhancers	Brain Cingulate Gyrus	brain
23	chr16:77416600-77416800	Enhancers	Pancreas	Pancrea
24	chr16:77416800-77417800	Weak transcription	Pancreas	Pancrea
25	chr16:77416800-77419200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr16:77416800-77425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:77417200-77418800	Enhancers	HepG2	liver
28	chr16:77417200-77419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:77417600-77417800	Enhancers	Brain Germinal Matrix	brain
30	chr16:77417800-77418000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:77417800-77418000	Enhancers	Pancreas	Pancrea
32	chr16:77417800-77418400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:77418000-77418600	Enhancers	Brain Angular Gyrus	brain
34	chr16:77418000-77421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:77418200-77418400	Active TSS	Brain Substantia Nigra	brain
36	chr16:77418200-77418400	Enhancers	HUVEC	blood vessel
37	chr16:77418200-77418600	Enhancers	Fetal Lung	lung
38	chr16:77418400-77418600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr16:77418400-77419400	Weak transcription	HUVEC	blood vessel
40	chr16:77418400-77421000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:77418600-77418800	Enhancers	Brain Substantia Nigra	brain
42	chr16:77418600-77419000	Weak transcription	Fetal Lung	lung
43	chr16:77418600-77419400	Weak transcription	Brain Germinal Matrix	brain
44	chr16:77418600-77421000	Weak transcription	Brain Angular Gyrus	brain
45	chr16:77418800-77419200	Weak transcription	Brain Substantia Nigra	brain
46	chr16:77418800-77419200	Weak transcription	HepG2	liver
47	chr16:77419000-77422600	Enhancers	Fetal Lung	lung
48	chr16:77419200-77419400	Enhancers	Brain Cingulate Gyrus	brain
49	chr16:77419200-77420200	Enhancers	HepG2	liver
50	chr16:77419200-77422600	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links