Variant report

Variant	nsv527828
Chromosome Location	chr16:82721424-82724092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
2	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
3	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
4	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8058	chr16:82722593-82722614	MIMAT0030985

Extended variants
information (count: 176 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11640875	chr16:82721424-82721425	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572139417	chr16:82721432-82721433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542335266	chr16:82721450-82721451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556807290	chr16:82721452-82721453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138667318	chr16:82721453-82721454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543359568	chr16:82721466-82721467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186081577	chr16:82721469-82721470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73601068	chr16:82721470-82721471	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140377228	chr16:82721476-82721477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577410611	chr16:82721480-82721481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7187077	chr16:82721491-82721492	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145480177	chr16:82721506-82721507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549228827	chr16:82721508-82721509	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11863905	chr16:82721546-82721547	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531608738	chr16:82721551-82721552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550193482	chr16:82721553-82721554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571607911	chr16:82721554-82721555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78929414	chr16:82721558-82721559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191326054	chr16:82721588-82721589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16958286	chr16:82721635-82721636	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75269671	chr16:82721641-82721642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372566570	chr16:82721669-82721670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536412811	chr16:82721692-82721693	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554375902	chr16:82721693-82721694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188311314	chr16:82721704-82721705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117815716	chr16:82721712-82721713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543054668	chr16:82721786-82721787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143974117	chr16:82721795-82721796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577947480	chr16:82721801-82721802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578193990	chr16:82721807-82721808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560381958	chr16:82721809-82721810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572564549	chr16:82721819-82721820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148219431	chr16:82721836-82721837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368181761	chr16:82721851-82721852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372019517	chr16:82721875-82721876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548592056	chr16:82721893-82721894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141163945	chr16:82721906-82721907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191977699	chr16:82721924-82721925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183202405	chr16:82721926-82721927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532519896	chr16:82721940-82721941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187862787	chr16:82721962-82721963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150714187	chr16:82721981-82721982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536104434	chr16:82721984-82721985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531815716	chr16:82722038-82722039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140204436	chr16:82722069-82722070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144063677	chr16:82722090-82722091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117073133	chr16:82722111-82722112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558203709	chr16:82722126-82722127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576449113	chr16:82722168-82722169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534282046	chr16:82722199-82722200	Weak transcription Strong 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82695400-82726600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:82709600-82724200	Weak transcription	Aorta	Aorta
4	chr16:82709600-82728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:82709800-82727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:82710000-82727200	Weak transcription	NH-A	brain
7	chr16:82717200-82722400	Weak transcription	Fetal Intestine Large	intestine
8	chr16:82717200-82726600	Weak transcription	HMEC	breast
9	chr16:82718000-82726400	Weak transcription	NHEK	skin
10	chr16:82719400-82723000	Weak transcription	Fetal Intestine Small	intestine
11	chr16:82719400-82728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:82719600-82727200	Weak transcription	HSMMtube	muscle
13	chr16:82720000-82722600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82720400-82722000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:82720400-82722200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:82720600-82724200	Weak transcription	HSMM	muscle
17	chr16:82721000-82721600	Weak transcription	Psoas Muscle	Psoas
18	chr16:82721200-82721800	Enhancers	Right Ventricle	heart
19	chr16:82721200-82722000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:82721200-82722200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:82721400-82722000	Enhancers	Left Ventricle	heart
22	chr16:82721400-82724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:82721600-82722600	Enhancers	Psoas Muscle	Psoas
24	chr16:82721800-82728400	Weak transcription	Right Ventricle	heart
25	chr16:82722000-82726600	Weak transcription	Left Ventricle	heart
26	chr16:82722000-82728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:82722200-82726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:82722400-82723000	Enhancers	Fetal Intestine Large	intestine
29	chr16:82722600-82726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:82722600-82731600	Weak transcription	Psoas Muscle	Psoas
31	chr16:82723000-82726600	Weak transcription	Fetal Intestine Large	intestine
32	chr16:82723200-82723600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:82723200-82726600	Weak transcription	Fetal Intestine Small	intestine

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