Variant report

Variant	nsv907023
Chromosome Location	chr16:82680391-82751932
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82699034..82700775-chr16:82703332..82705712,2	K562	blood:
2	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
3	chr16:82680839..82682470-chr16:82683350..82685003,2	MCF-7	breast:
4	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
5	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
6	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
7	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
8	chr16:82680839..82682470-chr16:82683350..82685003,2	MCF-7	breast:
9	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
10	chr16:82747264..82747918-chr8:126111551..126112155,2	MCF-7	breast:
11	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
12	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
13	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
14	chr16:82684737..82687483-chr16:82688249..82691193,2	MCF-7	breast:
15	chr16:82699034..82700775-chr16:82703332..82705712,2	K562	blood:
16	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
17	chr16:82684737..82687483-chr16:82688249..82691193,2	MCF-7	breast:

No data

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

No data

Extended variants
information (count: 4615 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:4615 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7187680	chr16:82680391-82680392	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs16957960	chr16:82680436-82680437	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570570049	chr16:82680452-82680453	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534698895	chr16:82680486-82680487	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375412456	chr16:82680488-82680489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191384887	chr16:82680489-82680490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574659092	chr16:82680504-82680505	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199886004	chr16:82680513-82680514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17176567	chr16:82680526-82680527	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs556953612	chr16:82680530-82680531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575442599	chr16:82680539-82680540	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546011622	chr16:82680541-82680542	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114397435	chr16:82680546-82680547	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539005112	chr16:82680551-82680552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183911080	chr16:82680559-82680560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540255251	chr16:82680560-82680561	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561634645	chr16:82680616-82680617	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147087144	chr16:82680622-82680623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548893890	chr16:82680637-82680638	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35463752	chr16:82680663-82680664	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79328052	chr16:82680670-82680671	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552304391	chr16:82680671-82680672	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551358122	chr16:82680722-82680723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529534475	chr16:82680745-82680746	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151073802	chr16:82680746-82680747	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534758769	chr16:82680775-82680776	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35184997	chr16:82680776-82680777	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188704334	chr16:82680786-82680787	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576103633	chr16:82680798-82680799	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535477553	chr16:82680800-82680801	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140981545	chr16:82680826-82680827	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115634548	chr16:82680828-82680829	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150200490	chr16:82680833-82680834	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74030910	chr16:82680836-82680837	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138695648	chr16:82680840-82680841	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16957965	chr16:82680847-82680848	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11863431	chr16:82680884-82680885	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528932554	chr16:82680893-82680894	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543818228	chr16:82680953-82680954	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564009967	chr16:82680981-82680982	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58511833	chr16:82680986-82680987	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539355886	chr16:82681005-82681006	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149541016	chr16:82681045-82681046	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144843119	chr16:82681050-82681051	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368686341	chr16:82681053-82681054	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546736153	chr16:82681082-82681083	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547248465	chr16:82681086-82681087	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373941172	chr16:82681113-82681114	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11863510	chr16:82681117-82681118	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569156266	chr16:82681138-82681139	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22549408	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD

Chromatin state (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82672000-82681400	Weak transcription	Esophagus	oesophagus
2	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
3	chr16:82673800-82685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:82675400-82682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82675400-82682800	Weak transcription	HMEC	breast
6	chr16:82675600-82680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82675600-82680600	Weak transcription	Right Ventricle	heart
8	chr16:82675600-82682400	Weak transcription	HSMM	muscle
9	chr16:82675600-82683000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:82676800-82681000	Weak transcription	Colonic Mucosa	Colon
11	chr16:82677200-82683800	Weak transcription	GM12878-XiMat	blood
12	chr16:82678000-82685600	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:82678000-82687000	Weak transcription	Lung	lung
14	chr16:82678200-82682600	Weak transcription	NHEK	skin
15	chr16:82678400-82683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:82678400-82687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:82679000-82685200	Weak transcription	Osteobl	bone
18	chr16:82679000-82685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:82679200-82680400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:82679200-82686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr16:82679400-82683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82679400-82683200	Weak transcription	NH-A	brain
23	chr16:82679400-82686800	Weak transcription	Fetal Heart	heart
24	chr16:82679600-82681600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr16:82679600-82685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:82679800-82680800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:82679800-82681600	Enhancers	Psoas Muscle	Psoas
28	chr16:82679800-82687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:82680000-82680800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:82680000-82681400	Enhancers	Left Ventricle	heart
31	chr16:82680400-82683200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr16:82680600-82681000	Enhancers	Right Ventricle	heart
33	chr16:82680600-82681200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:82680800-82682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:82680800-82683000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:82681000-82681200	Enhancers	Colonic Mucosa	Colon
37	chr16:82681000-82685800	Weak transcription	Right Ventricle	heart
38	chr16:82681200-82681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:82681200-82687000	Weak transcription	Colonic Mucosa	Colon
40	chr16:82681400-82681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:82681400-82683000	Weak transcription	Left Ventricle	heart
42	chr16:82681600-82682800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:82681600-82682800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:82681600-82683000	Weak transcription	Psoas Muscle	Psoas
45	chr16:82682200-82687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr16:82682400-82682600	Enhancers	HSMM	muscle
47	chr16:82682600-82683000	Weak transcription	HSMM	muscle
48	chr16:82682600-82683800	Enhancers	NHEK	skin
49	chr16:82682800-82683600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:82682800-82683800	Enhancers	HMEC	breast

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