Variant report

Variant	nsv573386
Chromosome Location	chr16:83091463-83170417
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
2	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
3	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
4	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
5	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
6	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
7	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:
8	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
9	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
10	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:
11	chr16:82401256..82401986-chr16:83102060..83102714,2	MCF-7	breast:
12	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:
13	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:

No data

Extended variants
information (count: 5513 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5513 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8044036	chr16:83091463-83091464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142892473	chr16:83091466-83091467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147272367	chr16:83091469-83091470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140719480	chr16:83091470-83091471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114668169	chr16:83091506-83091507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6565109	chr16:83091529-83091530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs28754272	chr16:83091532-83091533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187420636	chr16:83091547-83091548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541107234	chr16:83091548-83091549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560954310	chr16:83091554-83091555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529871102	chr16:83091569-83091570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549823840	chr16:83091577-83091578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570121732	chr16:83091580-83091581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7202733	chr16:83091595-83091596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116755517	chr16:83091618-83091619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552192219	chr16:83091639-83091640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28714398	chr16:83091670-83091671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534819688	chr16:83091679-83091680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548633339	chr16:83091706-83091707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571549301	chr16:83091707-83091708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189672591	chr16:83091716-83091717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79214612	chr16:83091717-83091718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557372475	chr16:83091740-83091741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577660400	chr16:83091761-83091762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115444122	chr16:83091766-83091767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73596276	chr16:83091775-83091776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542491244	chr16:83091776-83091777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114654265	chr16:83091854-83091855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540790937	chr16:83091858-83091859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7500599	chr16:83091869-83091870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs66489055	chr16:83091877-83091878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536301628	chr16:83091890-83091891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543646979	chr16:83091939-83091940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563133479	chr16:83091945-83091946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532307453	chr16:83091949-83091950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374146733	chr16:83091968-83091969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111419345	chr16:83091970-83091971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181009303	chr16:83091975-83091976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76652947	chr16:83092002-83092003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528449266	chr16:83092003-83092004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548400567	chr16:83092009-83092010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185370469	chr16:83092010-83092011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4315315	chr16:83092014-83092015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144580559	chr16:83092017-83092018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540168096	chr16:83092025-83092026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4238724	chr16:83092033-83092034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572086611	chr16:83092036-83092037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553599007	chr16:83092051-83092052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554371775	chr16:83092053-83092054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574514298	chr16:83092054-83092055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83067800-83094200	Weak transcription	Aorta	Aorta
2	chr16:83074600-83094000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:83080600-83097400	Weak transcription	Left Ventricle	heart
4	chr16:83080800-83094600	Weak transcription	HSMMtube	muscle
5	chr16:83082600-83095600	Weak transcription	HSMM	muscle
6	chr16:83090200-83129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:83092000-83093200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr16:83092200-83092600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:83092400-83093000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr16:83092800-83093000	Enhancers	Psoas Muscle	Psoas
12	chr16:83093000-83094200	Weak transcription	Psoas Muscle	Psoas
13	chr16:83093000-83096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:83093200-83094200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:83094000-83096200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:83094200-83094600	Enhancers	Aorta	Aorta
17	chr16:83094200-83094800	Enhancers	Psoas Muscle	Psoas
18	chr16:83094200-83096000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr16:83094600-83095200	Enhancers	HSMMtube	muscle
20	chr16:83094600-83101400	Weak transcription	Aorta	Aorta
21	chr16:83094800-83095600	Enhancers	NHDF-Ad	bronchial
22	chr16:83094800-83096800	Weak transcription	Psoas Muscle	Psoas
23	chr16:83095200-83096200	Weak transcription	HSMMtube	muscle
24	chr16:83095600-83097200	Strong transcription	HSMM	muscle
25	chr16:83096000-83096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:83096200-83096400	ZNF genes & repeats	HSMMtube	muscle
27	chr16:83096200-83096600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:83096400-83097000	Weak transcription	HSMMtube	muscle
29	chr16:83096400-83097600	Enhancers	HMEC	breast
30	chr16:83096400-83097800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:83096600-83097600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:83096800-83097000	Enhancers	Psoas Muscle	Psoas
33	chr16:83096800-83097200	Enhancers	NHEK	skin
34	chr16:83096800-83098000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr16:83097000-83097400	Weak transcription	Psoas Muscle	Psoas
36	chr16:83097000-83097400	Enhancers	HSMMtube	muscle
37	chr16:83097000-83097600	Enhancers	Right Ventricle	heart
38	chr16:83097000-83097600	Enhancers	Osteobl	bone
39	chr16:83097200-83097400	Genic enhancers	HSMM	muscle
40	chr16:83097200-83106600	Weak transcription	NHEK	skin
41	chr16:83097400-83097600	Enhancers	Psoas Muscle	Psoas
42	chr16:83097400-83098000	Enhancers	Left Ventricle	heart
43	chr16:83097400-83106400	Weak transcription	HSMM	muscle
44	chr16:83097400-83107000	Weak transcription	HSMMtube	muscle
45	chr16:83097600-83098000	Enhancers	Fetal Muscle Trunk	muscle
46	chr16:83097600-83099000	Weak transcription	Psoas Muscle	Psoas
47	chr16:83097600-83099400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:83097600-83101800	Weak transcription	Osteobl	bone
49	chr16:83097600-83129200	Weak transcription	HMEC	breast
50	chr16:83098000-83101600	Weak transcription	Left Ventricle	heart

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