Variant report

Variant	nsv907021
Chromosome Location	chr16:82616304-82628183
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..82628346-chr16:82628444..82630812,2	K562	blood:
2	chr16:82626049..82628393-chr16:82628444..82630812,3	K562	blood:

Extended variants
information (count: 392 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:392 , 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	rs3910216	chr16:82616304-82616305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181809305	chr16:82616313-82616314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5818390	chr16:82616342-82616343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66495805	chr16:82616344-82616345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200977846	chr16:82616346-82616347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561477495	chr16:82616363-82616364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531894318	chr16:82616366-82616367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201538610	chr16:82616371-82616372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3910215	chr16:82616374-82616375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565279719	chr16:82616419-82616420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368091279	chr16:82616463-82616464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186497951	chr16:82616466-82616467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7190974	chr16:82616495-82616496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531020885	chr16:82616496-82616497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565711179	chr16:82616500-82616501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575173593	chr16:82616530-82616531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536148299	chr16:82616537-82616538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189566466	chr16:82616550-82616551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112694816	chr16:82616562-82616563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569609020	chr16:82616574-82616575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536883322	chr16:82616577-82616578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558700519	chr16:82616614-82616615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576893759	chr16:82616630-82616631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3852718	chr16:82616636-82616637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564266718	chr16:82616652-82616653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7192065	chr16:82616664-82616665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540972133	chr16:82616687-82616688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112008542	chr16:82616706-82616707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72832103	chr16:82616716-82616717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543347165	chr16:82616740-82616741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3886466	chr16:82616745-82616746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576800468	chr16:82616748-82616749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16957780	chr16:82616749-82616750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs16957781	chr16:82616750-82616751	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368693689	chr16:82616757-82616758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180824382	chr16:82616759-82616760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3852719	chr16:82616760-82616761	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530079247	chr16:82616761-82616762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186109089	chr16:82616781-82616782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149901469	chr16:82616812-82616813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144908820	chr16:82616822-82616823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191404994	chr16:82616847-82616848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570591604	chr16:82616876-82616877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534430144	chr16:82616878-82616879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34094229	chr16:82616919-82616920	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs397854638	chr16:82616923-82616924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574583187	chr16:82616940-82616941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550939435	chr16:82616941-82616942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9928117	chr16:82616996-82616997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557963496	chr16:82616998-82616999	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82612600-82616600	Weak transcription	Psoas Muscle	Psoas
2	chr16:82614600-82618200	Weak transcription	Lung	lung
3	chr16:82614600-82620000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:82615000-82616400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:82615600-82616400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:82616400-82617200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:82616400-82617800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr16:82616400-82617800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr16:82616600-82617000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:82616600-82617200	Enhancers	HSMM	muscle
11	chr16:82616600-82617600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:82616600-82619200	Enhancers	Psoas Muscle	Psoas
13	chr16:82616800-82617200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr16:82617000-82617200	Enhancers	NH-A	brain
15	chr16:82617000-82617200	Enhancers	Osteobl	bone
16	chr16:82617200-82618200	Weak transcription	HSMM	muscle
17	chr16:82617200-82618400	Weak transcription	NH-A	brain
18	chr16:82617200-82618800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:82617200-82618800	Weak transcription	Osteobl	bone
20	chr16:82617600-82618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:82617800-82618200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr16:82617800-82619400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr16:82618200-82618400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr16:82618200-82618600	Active TSS	Left Ventricle	heart
25	chr16:82618200-82618800	Active TSS	HSMMtube	muscle
26	chr16:82618200-82619400	Enhancers	HSMM	muscle
27	chr16:82618400-82618600	Flanking Bivalent TSS/Enh	Lung	lung
28	chr16:82618400-82618600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr16:82618400-82619400	Enhancers	NH-A	brain
30	chr16:82618600-82618800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:82618600-82618800	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr16:82618800-82619000	Enhancers	HSMMtube	muscle
33	chr16:82618800-82619200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr16:82618800-82619200	Enhancers	Osteobl	bone
35	chr16:82618800-82619400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr16:82619000-82619200	Flanking Active TSS	HSMMtube	muscle
37	chr16:82619200-82619400	Flanking Active TSS	Osteobl	bone
38	chr16:82619200-82619600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:82619200-82619600	Enhancers	HSMMtube	muscle
40	chr16:82619200-82620400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:82620000-82622200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr16:82620400-82622000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr16:82620800-82622200	Enhancers	Stomach Mucosa	stomach
44	chr16:82621200-82621400	Enhancers	Duodenum Mucosa	Duodenum
45	chr16:82621200-82622000	Enhancers	Gastric	stomach
46	chr16:82627000-82628800	Enhancers	Brain Germinal Matrix	brain
47	chr16:82627000-82629200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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