Variant report

Variant	nsv573388
Chromosome Location	chr16:83134457-83155723
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:
2	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
3	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
4	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
5	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
6	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:
7	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
8	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
9	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:

No data

Extended variants
information (count: 1561 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1561 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4395062	chr16:83134457-83134458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550059329	chr16:83134466-83134467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550514709	chr16:83134480-83134481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538995398	chr16:83134485-83134486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369629071	chr16:83134501-83134502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555140897	chr16:83134507-83134508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577026133	chr16:83134541-83134542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76929602	chr16:83134544-83134545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534805342	chr16:83134551-83134552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554783181	chr16:83134555-83134556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28752144	chr16:83134589-83134590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557205681	chr16:83134596-83134597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538138973	chr16:83134598-83134599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545020011	chr16:83134603-83134604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141394841	chr16:83134607-83134608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12923526	chr16:83134625-83134626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376574912	chr16:83134633-83134634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527425158	chr16:83134654-83134655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12149089	chr16:83134689-83134690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561071496	chr16:83134721-83134722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78579786	chr16:83134725-83134726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550120078	chr16:83134740-83134741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577486756	chr16:83134756-83134757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566220447	chr16:83134761-83134762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114827445	chr16:83134791-83134792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116311298	chr16:83134795-83134796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28707197	chr16:83134803-83134804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs28488381	chr16:83134807-83134808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150593574	chr16:83134810-83134811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115876023	chr16:83134839-83134840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183477806	chr16:83134862-83134863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112396660	chr16:83134865-83134866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557115529	chr16:83134879-83134880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577492747	chr16:83134890-83134891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13331429	chr16:83134911-83134912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186662789	chr16:83134920-83134921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571905584	chr16:83134956-83134957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546346849	chr16:83134966-83134967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191567879	chr16:83134996-83134997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28582337	chr16:83135010-83135011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138744522	chr16:83135028-83135029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560081761	chr16:83135040-83135041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543670437	chr16:83135041-83135042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117224801	chr16:83135048-83135049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74835881	chr16:83135052-83135053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377466281	chr16:83135069-83135070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28703240	chr16:83135088-83135089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114379606	chr16:83135104-83135105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566070546	chr16:83135114-83135115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531838697	chr16:83135124-83135125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
2	chr16:83130400-83139400	Weak transcription	HSMM	muscle
3	chr16:83132800-83135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:83133400-83136400	Enhancers	HMEC	breast
5	chr16:83133400-83143200	Weak transcription	HSMMtube	muscle
6	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:83134000-83134600	Enhancers	NHEK	skin
8	chr16:83134200-83134600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:83134200-83134800	Enhancers	Osteobl	bone
10	chr16:83134400-83135400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:83134400-83135400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:83134600-83135400	Weak transcription	NHEK	skin
13	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:83135400-83136200	ZNF genes & repeats	NHEK	skin
15	chr16:83135400-83136400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:83135400-83136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:83135600-83136400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:83136000-83136200	Enhancers	Left Ventricle	heart
19	chr16:83136000-83147000	Weak transcription	Aorta	Aorta
20	chr16:83136200-83136400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:83136200-83138400	Weak transcription	NHEK	skin
22	chr16:83136200-83147200	Weak transcription	Left Ventricle	heart
23	chr16:83136400-83137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:83136400-83138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:83136400-83138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:83136400-83138600	Weak transcription	HMEC	breast
27	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:83137200-83138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:83138200-83138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:83138400-83139600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:83138400-83140200	Enhancers	NHEK	skin
33	chr16:83138600-83139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:83138600-83140000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:83138600-83140000	Enhancers	HMEC	breast
36	chr16:83139400-83140000	Strong transcription	HSMM	muscle
37	chr16:83139600-83150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:83139800-83142000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:83140000-83143800	Weak transcription	HSMM	muscle
40	chr16:83140000-83153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr16:83140000-83158400	Weak transcription	HMEC	breast
42	chr16:83140200-83158400	Weak transcription	NHEK	skin
43	chr16:83142000-83142200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:83142000-83142400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:83142200-83149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:83142400-83143200	Enhancers	NHDF-Ad	bronchial
47	chr16:83142400-83153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:83143000-83143200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:83143200-83143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:83143200-83143600	Flanking Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links