Variant report

Variant	nsv573291
Chromosome Location	chr16:79881386-79931595
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
2	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
3	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
4	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
5	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
6	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
7	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
8	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
9	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
10	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
11	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
12	chr16:79924695..79926567-chr16:79927606..79930494,2	MCF-7	breast:
13	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
14	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
15	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
16	chr16:79930657..79933146-chr16:79935922..79938494,3	K562	blood:
17	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
18	chr16:79931098..79932051-chr3:134105897..134106490,2	MCF-7	breast:
19	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
20	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
21	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
22	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
23	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
24	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
25	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
26	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:
27	chr16:79930002..79932822-chr16:79943489..79945952,3	K562	blood:
28	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
29	chr16:79876074..79877931-chr16:79879588..79883797,3	K562	blood:
30	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
31	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
32	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:
33	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
34	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
35	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
36	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
37	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
38	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
39	chr16:79924695..79926567-chr16:79927606..79930494,2	MCF-7	breast:
40	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
41	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
42	chr16:79881818..79884623-chr16:80099002..80101726,2	K562	blood:
43	chr16:79868315..79871347-chr16:79879608..79882183,3	K562	blood:
44	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
45	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
46	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
47	chr16:79930657..79933146-chr16:79934567..79938494,4	K562	blood:
48	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
49	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
50	chr16:79926658..79928778-chr16:79932145..79933680,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260706	chromatin interactions

Extended variants
information (count: 2991 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13329842	chr16:79881386-79881387	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7205082	chr16:79881413-79881414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs79322638	chr16:79881419-79881420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7203769	chr16:79881428-79881429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371957453	chr16:79881429-79881430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375064469	chr16:79881434-79881435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536886525	chr16:79881441-79881442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs80182721	chr16:79881449-79881450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576719839	chr16:79881450-79881451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11644893	chr16:79881463-79881464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559004691	chr16:79881480-79881481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536537971	chr16:79881496-79881497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572425928	chr16:79881501-79881502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11646016	chr16:79881508-79881509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74037865	chr16:79881520-79881521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183928046	chr16:79881527-79881528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145613046	chr16:79881560-79881561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77688917	chr16:79881566-79881567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577399353	chr16:79881568-79881569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535148000	chr16:79881611-79881612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74037866	chr16:79881617-79881618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59832278	chr16:79881622-79881623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140312732	chr16:79881631-79881632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114269257	chr16:79881639-79881640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11639767	chr16:79881644-79881645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77544751	chr16:79881647-79881648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11649677	chr16:79881650-79881651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4614735	chr16:79881658-79881659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547132910	chr16:79881677-79881678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11649685	chr16:79881686-79881687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187311296	chr16:79881695-79881696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548516991	chr16:79881709-79881710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142277038	chr16:79881714-79881715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374307618	chr16:79881730-79881731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531264185	chr16:79881770-79881771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552581583	chr16:79881783-79881784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570904004	chr16:79881817-79881818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374201611	chr16:79881826-79881827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377619516	chr16:79881840-79881841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74038035	chr16:79881864-79881865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553390598	chr16:79881870-79881871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74038036	chr16:79881887-79881888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536412923	chr16:79881897-79881898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531498355	chr16:79881914-79881915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7204701	chr16:79881925-79881926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74038037	chr16:79881940-79881941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543360599	chr16:79881948-79881949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs74038038	chr16:79881969-79881970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7184127	chr16:79882015-79882016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570389250	chr16:79882029-79882030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79876000-79882400	Weak transcription	Fetal Lung	lung
2	chr16:79879200-79882400	Weak transcription	Fetal Stomach	stomach
3	chr16:79879600-79885200	Enhancers	Thymus	Thymus
4	chr16:79879800-79884600	Enhancers	Fetal Thymus	thymus
5	chr16:79880000-79881600	Enhancers	GM12878-XiMat	blood
6	chr16:79880000-79883400	Weak transcription	Primary T cells from cord blood	blood
7	chr16:79880200-79881800	Enhancers	K562	blood
8	chr16:79880400-79882600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:79880600-79881800	Enhancers	Esophagus	oesophagus
10	chr16:79880600-79884800	Enhancers	NHEK	skin
11	chr16:79880800-79881400	Enhancers	HMEC	breast
12	chr16:79880800-79882200	Enhancers	Duodenum Mucosa	Duodenum
13	chr16:79880800-79882800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:79880800-79883600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr16:79880800-79885200	Enhancers	Colon Smooth Muscle	Colon
16	chr16:79881000-79881600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr16:79881200-79881400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:79881200-79881400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:79881200-79881400	Enhancers	Fetal Intestine Large	intestine
20	chr16:79881200-79881400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr16:79881200-79881400	Enhancers	Placenta	Placenta
22	chr16:79881200-79881400	Enhancers	Pancreas	Pancrea
23	chr16:79881200-79881600	Enhancers	Rectal Smooth Muscle	rectum
24	chr16:79881400-79882800	Weak transcription	Fetal Intestine Large	intestine
25	chr16:79881400-79882800	Weak transcription	Placenta	Placenta
26	chr16:79881400-79883200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:79881600-79881800	Enhancers	Gastric	stomach
28	chr16:79881600-79882600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr16:79881600-79883000	Weak transcription	GM12878-XiMat	blood
30	chr16:79881800-79882200	Weak transcription	Esophagus	oesophagus
31	chr16:79881800-79882200	Weak transcription	K562	blood
32	chr16:79881800-79883000	Weak transcription	Gastric	stomach
33	chr16:79882200-79882800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr16:79882200-79883400	Enhancers	Esophagus	oesophagus
35	chr16:79882400-79882800	Enhancers	Fetal Lung	lung
36	chr16:79882400-79882800	Enhancers	Fetal Stomach	stomach
37	chr16:79882600-79882800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:79882600-79883200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr16:79882600-79883200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr16:79882800-79883000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:79882800-79883200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:79882800-79883200	Enhancers	Duodenum Mucosa	Duodenum
43	chr16:79882800-79883600	Weak transcription	Fetal Lung	lung
44	chr16:79882800-79883600	Enhancers	Placenta	Placenta
45	chr16:79882800-79883600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr16:79882800-79883800	Enhancers	Fetal Intestine Large	intestine
47	chr16:79882800-79883800	Enhancers	Fetal Intestine Small	intestine
48	chr16:79883000-79883200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:79883000-79883200	Enhancers	HMEC	breast
50	chr16:79883000-79883400	Enhancers	Gastric	stomach

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