Variant report

Variant	nsv528194
Chromosome Location	chr16:82615741-82626734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82626049..82628393-chr16:82628444..82630812,3	K562	blood:
2	chr16:82626049..82628346-chr16:82628444..82630812,2	K562	blood:

Extended variants
information (count: 364 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9925015	chr16:82615741-82615742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571517865	chr16:82615790-82615791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9932195	chr16:82615804-82615805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555167460	chr16:82615806-82615807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184739880	chr16:82615808-82615809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144252196	chr16:82615814-82615815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9932202	chr16:82615815-82615816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113771259	chr16:82615818-82615819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554329196	chr16:82615827-82615828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112172389	chr16:82615836-82615837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141798910	chr16:82615841-82615842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564905093	chr16:82615849-82615850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535373878	chr16:82615853-82615854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576686582	chr16:82615859-82615860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531961841	chr16:82615889-82615890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537688283	chr16:82615910-82615911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186562210	chr16:82615914-82615915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558675400	chr16:82615918-82615919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115745875	chr16:82615947-82615948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9925266	chr16:82615959-82615960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370308111	chr16:82615972-82615973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569076064	chr16:82616007-82616008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192646877	chr16:82616012-82616013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76942827	chr16:82616040-82616041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371707375	chr16:82616067-82616068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116029604	chr16:82616068-82616069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184493439	chr16:82616083-82616084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576873728	chr16:82616104-82616105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72830298	chr16:82616109-82616110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112765439	chr16:82616148-82616149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189815586	chr16:82616185-82616186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192802395	chr16:82616186-82616187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375698166	chr16:82616206-82616207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139923490	chr16:82616223-82616224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185105254	chr16:82616226-82616227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558413396	chr16:82616235-82616236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189122082	chr16:82616237-82616238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540260855	chr16:82616264-82616265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3910217	chr16:82616265-82616266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143322082	chr16:82616303-82616304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3910216	chr16:82616304-82616305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181809305	chr16:82616313-82616314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5818390	chr16:82616342-82616343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66495805	chr16:82616344-82616345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200977846	chr16:82616346-82616347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561477495	chr16:82616363-82616364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531894318	chr16:82616366-82616367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201538610	chr16:82616371-82616372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3910215	chr16:82616374-82616375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565279719	chr16:82616419-82616420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Autism	20841430	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82612600-82616600	Weak transcription	Psoas Muscle	Psoas
2	chr16:82614400-82616000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:82614600-82618200	Weak transcription	Lung	lung
4	chr16:82614600-82620000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:82615000-82616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr16:82615600-82616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:82616400-82617200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:82616400-82617800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr16:82616400-82617800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:82616600-82617000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:82616600-82617200	Enhancers	HSMM	muscle
12	chr16:82616600-82617600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:82616600-82619200	Enhancers	Psoas Muscle	Psoas
14	chr16:82616800-82617200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr16:82617000-82617200	Enhancers	NH-A	brain
16	chr16:82617000-82617200	Enhancers	Osteobl	bone
17	chr16:82617200-82618200	Weak transcription	HSMM	muscle
18	chr16:82617200-82618400	Weak transcription	NH-A	brain
19	chr16:82617200-82618800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:82617200-82618800	Weak transcription	Osteobl	bone
21	chr16:82617600-82618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:82617800-82618200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr16:82617800-82619400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr16:82618200-82618400	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr16:82618200-82618600	Active TSS	Left Ventricle	heart
26	chr16:82618200-82618800	Active TSS	HSMMtube	muscle
27	chr16:82618200-82619400	Enhancers	HSMM	muscle
28	chr16:82618400-82618600	Flanking Bivalent TSS/Enh	Lung	lung
29	chr16:82618400-82618600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr16:82618400-82619400	Enhancers	NH-A	brain
31	chr16:82618600-82618800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:82618600-82618800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr16:82618800-82619000	Enhancers	HSMMtube	muscle
34	chr16:82618800-82619200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr16:82618800-82619200	Enhancers	Osteobl	bone
36	chr16:82618800-82619400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr16:82619000-82619200	Flanking Active TSS	HSMMtube	muscle
38	chr16:82619200-82619400	Flanking Active TSS	Osteobl	bone
39	chr16:82619200-82619600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr16:82619200-82619600	Enhancers	HSMMtube	muscle
41	chr16:82619200-82620400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:82620000-82622200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr16:82620400-82622000	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr16:82620800-82622200	Enhancers	Stomach Mucosa	stomach
45	chr16:82621200-82621400	Enhancers	Duodenum Mucosa	Duodenum
46	chr16:82621200-82622000	Enhancers	Gastric	stomach

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