Variant report

Variant	nsv573387
Chromosome Location	chr16:83103233-83148925
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
2	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
3	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:
4	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
5	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
6	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
7	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
8	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
9	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
10	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:

No data

Extended variants
information (count: 3216 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3216 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7198852	chr16:83103233-83103234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533835613	chr16:83103241-83103242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147377938	chr16:83103275-83103276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148403756	chr16:83103277-83103278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371424709	chr16:83103294-83103295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386793162	chr16:83103340-83103341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542799564	chr16:83103341-83103342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374170258	chr16:83103349-83103350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562690938	chr16:83103357-83103358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141608522	chr16:83103359-83103360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539563828	chr16:83103363-83103364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189803046	chr16:83103383-83103384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564902567	chr16:83103391-83103392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72796236	chr16:83103394-83103395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547440549	chr16:83103401-83103402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569876664	chr16:83103402-83103403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561539636	chr16:83103410-83103411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181109359	chr16:83103411-83103412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372838116	chr16:83103438-83103439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150697194	chr16:83103459-83103460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186389228	chr16:83103466-83103467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551408515	chr16:83103514-83103515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571233429	chr16:83103538-83103539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533875651	chr16:83103570-83103571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191812834	chr16:83103612-83103613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139960865	chr16:83103630-83103631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536903693	chr16:83103660-83103661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556308694	chr16:83103684-83103685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183639022	chr16:83103692-83103693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187823811	chr16:83103710-83103711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564940666	chr16:83103717-83103718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143880889	chr16:83103727-83103728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541405018	chr16:83103728-83103729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573944341	chr16:83103758-83103759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190885656	chr16:83103807-83103808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74820055	chr16:83103811-83103812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550139051	chr16:83103812-83103813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113483336	chr16:83103825-83103826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563867754	chr16:83103845-83103846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532876743	chr16:83103848-83103849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377227099	chr16:83103867-83103868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199710649	chr16:83103873-83103874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186602044	chr16:83103918-83103919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566368968	chr16:83103929-83103930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6565111	chr16:83103934-83103935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575566412	chr16:83103942-83103943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547350855	chr16:83103945-83103946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116833961	chr16:83103957-83103958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536312159	chr16:83103980-83103981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535764238	chr16:83103994-83103995	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:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83090200-83129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:83097200-83106600	Weak transcription	NHEK	skin
4	chr16:83097400-83106400	Weak transcription	HSMM	muscle
5	chr16:83097400-83107000	Weak transcription	HSMMtube	muscle
6	chr16:83097600-83129200	Weak transcription	HMEC	breast
7	chr16:83099600-83106600	Weak transcription	Psoas Muscle	Psoas
8	chr16:83100200-83106200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83101400-83106600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:83102000-83105200	Enhancers	HUVEC	blood vessel
11	chr16:83102000-83106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83102400-83103600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:83102800-83106600	Weak transcription	NH-A	brain
14	chr16:83102800-83106600	Weak transcription	Osteobl	bone
15	chr16:83103000-83103600	Enhancers	Aorta	Aorta
16	chr16:83103200-83103400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:83103200-83103400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:83103200-83103400	Enhancers	Colon Smooth Muscle	Colon
19	chr16:83103200-83103600	Enhancers	Right Atrium	heart
20	chr16:83103400-83104400	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:83103400-83106600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:83103400-83106600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:83103600-83105000	Weak transcription	Aorta	Aorta
24	chr16:83103800-83104000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr16:83104400-83105000	Enhancers	Colon Smooth Muscle	Colon
26	chr16:83105000-83105200	ZNF genes & repeats	Aorta	Aorta
27	chr16:83105000-83106400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr16:83105200-83106600	Weak transcription	HUVEC	blood vessel
29	chr16:83105200-83109200	Weak transcription	Aorta	Aorta
30	chr16:83106200-83106800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:83106200-83106800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr16:83106200-83106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr16:83106200-83106800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr16:83106200-83107000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:83106200-83107200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:83106200-83107200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr16:83106400-83106800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:83106400-83106800	Enhancers	HSMM	muscle
39	chr16:83106400-83107000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:83106600-83106800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:83106600-83106800	Enhancers	Psoas Muscle	Psoas
42	chr16:83106600-83106800	Enhancers	Osteobl	bone
43	chr16:83106600-83107000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:83106600-83107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:83106600-83107000	Enhancers	HUVEC	blood vessel
46	chr16:83106600-83107000	Enhancers	NH-A	brain
47	chr16:83106600-83107000	Enhancers	NHEK	skin
48	chr16:83106600-83107400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr16:83106600-83107400	Enhancers	NHDF-Ad	bronchial
50	chr16:83106800-83107000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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