Variant report

Variant	nsv1060245
Chromosome Location	chr16:83105024-83146684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
2	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
3	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
4	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
5	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:
6	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:

Extended variants
information (count: 2932 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2932 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11863364	chr16:83105024-83105025	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186552631	chr16:83105028-83105029	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs539949299	chr16:83105043-83105044	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs56231020	chr16:83105056-83105057	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115483127	chr16:83105061-83105062	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34890323	chr16:83105067-83105068	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575739619	chr16:83105098-83105099	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536072912	chr16:83105109-83105110	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs11864250	chr16:83105164-83105165	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575908443	chr16:83105170-83105171	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376429801	chr16:83105181-83105182	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs368955674	chr16:83105195-83105196	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142780406	chr16:83105221-83105222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189718109	chr16:83105249-83105250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370755353	chr16:83105251-83105252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543238145	chr16:83105255-83105256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11864522	chr16:83105275-83105276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373506393	chr16:83105280-83105281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371992066	chr16:83105282-83105283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376549977	chr16:83105321-83105322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111846766	chr16:83105344-83105345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35258719	chr16:83105402-83105403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11864323	chr16:83105406-83105407	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550853906	chr16:83105423-83105424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570751145	chr16:83105437-83105438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374750636	chr16:83105501-83105502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137965057	chr16:83105510-83105511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373907101	chr16:83105514-83105515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181424952	chr16:83105518-83105519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555948265	chr16:83105522-83105523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569059309	chr16:83105546-83105547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185975813	chr16:83105558-83105559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558068658	chr16:83105579-83105580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11642608	chr16:83105588-83105589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577912222	chr16:83105593-83105594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115552368	chr16:83105599-83105600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28392719	chr16:83105604-83105605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74030401	chr16:83105629-83105630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201863121	chr16:83105643-83105644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551495503	chr16:83105677-83105678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541516086	chr16:83105678-83105679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183243894	chr16:83105694-83105695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530769400	chr16:83105712-83105713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544418920	chr16:83105720-83105721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114959616	chr16:83105725-83105726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11864443	chr16:83105733-83105734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11864653	chr16:83105745-83105746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs149464002	chr16:83105751-83105752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545998124	chr16:83105776-83105777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529388856	chr16:83105788-83105789	Enhancers Weak transcription	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:159 , 50 per page) page: 1 2 3 4

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	chr16:83102800-83106600	Weak transcription	NH-A	brain
13	chr16:83102800-83106600	Weak transcription	Osteobl	bone
14	chr16:83103400-83106600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:83103400-83106600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:83105000-83105200	ZNF genes & repeats	Aorta	Aorta
17	chr16:83105000-83106400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr16:83105200-83106600	Weak transcription	HUVEC	blood vessel
19	chr16:83105200-83109200	Weak transcription	Aorta	Aorta
20	chr16:83106200-83106800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr16:83106200-83106800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr16:83106200-83106800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr16:83106200-83106800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr16:83106200-83107000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:83106200-83107200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:83106200-83107200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr16:83106400-83106800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr16:83106400-83106800	Enhancers	HSMM	muscle
29	chr16:83106400-83107000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr16:83106600-83106800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr16:83106600-83106800	Enhancers	Psoas Muscle	Psoas
32	chr16:83106600-83106800	Enhancers	Osteobl	bone
33	chr16:83106600-83107000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:83106600-83107000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:83106600-83107000	Enhancers	HUVEC	blood vessel
36	chr16:83106600-83107000	Enhancers	NH-A	brain
37	chr16:83106600-83107000	Enhancers	NHEK	skin
38	chr16:83106600-83107400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr16:83106600-83107400	Enhancers	NHDF-Ad	bronchial
40	chr16:83106800-83107000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr16:83106800-83129600	Weak transcription	HSMM	muscle
42	chr16:83107000-83107200	Enhancers	HSMMtube	muscle
43	chr16:83107000-83115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:83107000-83129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:83107200-83110400	Weak transcription	HSMMtube	muscle
46	chr16:83108200-83109600	Enhancers	Fetal Brain Male	brain
47	chr16:83108800-83109200	Enhancers	Left Ventricle	heart
48	chr16:83108800-83109400	Enhancers	Right Ventricle	heart
49	chr16:83109000-83109400	Enhancers	Fetal Brain Female	brain
50	chr16:83109200-83109400	Enhancers	Aorta	Aorta

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