Variant report

Variant	nsv907032
Chromosome Location	chr16:83130260-83152148
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	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
2	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:
3	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
4	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
5	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
6	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
7	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
8	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:

No data

Extended variants
information (count: 1564 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1564 , 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	rs4782747	chr16:83130260-83130261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565990375	chr16:83130313-83130314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565328573	chr16:83130314-83130315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs8060225	chr16:83130327-83130328	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541230162	chr16:83130343-83130344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs187614343	chr16:83130371-83130372	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561440510	chr16:83130380-83130381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558006293	chr16:83130405-83130406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190698033	chr16:83130407-83130408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550443301	chr16:83130408-83130409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568524822	chr16:83130413-83130414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570755835	chr16:83130427-83130428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531162465	chr16:83130434-83130435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115812548	chr16:83130444-83130445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6565120	chr16:83130456-83130457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74033137	chr16:83130493-83130494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142672180	chr16:83130503-83130504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567450620	chr16:83130555-83130556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545088153	chr16:83130558-83130559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556456822	chr16:83130575-83130576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576504778	chr16:83130588-83130589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545390240	chr16:83130606-83130607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559106974	chr16:83130614-83130615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12935419	chr16:83130628-83130629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369684303	chr16:83130651-83130652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541513513	chr16:83130658-83130659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36003770	chr16:83130660-83130661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557908857	chr16:83130681-83130682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530276143	chr16:83130703-83130704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181071571	chr16:83130707-83130708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573680048	chr16:83130715-83130716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185432920	chr16:83130719-83130720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540825927	chr16:83130745-83130746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73600112	chr16:83130749-83130750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575139146	chr16:83130758-83130759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114303327	chr16:83130759-83130760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573418079	chr16:83130760-83130761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56275589	chr16:83130769-83130770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567358214	chr16:83130775-83130776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113929209	chr16:83130777-83130778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550118229	chr16:83130784-83130785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189941802	chr16:83130806-83130807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539939581	chr16:83130812-83130813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6565121	chr16:83130821-83130822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538917548	chr16:83130846-83130847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559040846	chr16:83130853-83130854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13380614	chr16:83130873-83130874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182529782	chr16:83130878-83130879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555003364	chr16:83130901-83130902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9933341	chr16:83130935-83130936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83129200-83130400	Enhancers	HMEC	breast
2	chr16:83129600-83130400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:83129600-83130400	Enhancers	HSMM	muscle
4	chr16:83129600-83130400	Enhancers	NHDF-Ad	bronchial
5	chr16:83129600-83130400	Enhancers	Osteobl	bone
6	chr16:83129800-83130600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
8	chr16:83130000-83131600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83130000-83133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:83130200-83130400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr16:83130400-83131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:83130400-83139400	Weak transcription	HSMM	muscle
13	chr16:83131200-83131800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:83131600-83132800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:83132600-83133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:83132800-83135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:83133400-83133600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:83133400-83134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:83133400-83136400	Enhancers	HMEC	breast
20	chr16:83133400-83143200	Weak transcription	HSMMtube	muscle
21	chr16:83133600-83134400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:83134000-83134200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:83134000-83134600	Enhancers	NHEK	skin
25	chr16:83134200-83134600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr16:83134200-83134800	Enhancers	Osteobl	bone
27	chr16:83134400-83135400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:83134400-83135400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:83134600-83135400	Weak transcription	NHEK	skin
30	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr16:83135400-83136200	ZNF genes & repeats	NHEK	skin
32	chr16:83135400-83136400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:83135400-83136400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:83135600-83136400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:83136000-83136200	Enhancers	Left Ventricle	heart
36	chr16:83136000-83147000	Weak transcription	Aorta	Aorta
37	chr16:83136200-83136400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:83136200-83138400	Weak transcription	NHEK	skin
39	chr16:83136200-83147200	Weak transcription	Left Ventricle	heart
40	chr16:83136400-83137200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:83136400-83138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:83136400-83138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:83136400-83138600	Weak transcription	HMEC	breast
44	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:83137200-83138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:83138200-83138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:83138400-83139600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:83138400-83140200	Enhancers	NHEK	skin
50	chr16:83138600-83139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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