Variant report

Variant	nsv1065303
Chromosome Location	chr16:82685793-82758280
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82684737..82687483-chr16:82688249..82691193,2	MCF-7	breast:
2	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
3	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
4	chr16:82684737..82687483-chr16:82688249..82691193,2	MCF-7	breast:
5	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
6	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
7	chr16:82747264..82747918-chr8:126111551..126112155,2	MCF-7	breast:
8	chr16:82699034..82700775-chr16:82703332..82705712,2	K562	blood:
9	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
10	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
11	chr16:82699034..82700775-chr16:82703332..82705712,2	K562	blood:
12	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
13	chr16:82758028..82760301-chr16:82761456..82763834,2	K562	blood:
14	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
15	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
16	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B2-5	chr16:82756626-82756710	NONHSAT143992

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

No data

Extended variants
information (count: 4698 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:4698 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527506036	chr16:82685837-82685838	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372137868	chr16:82685868-82685869	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549129460	chr16:82685879-82685880	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182068499	chr16:82685895-82685896	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186703926	chr16:82685904-82685905	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192859760	chr16:82685928-82685929	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142740082	chr16:82685932-82685933	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375193933	chr16:82685938-82685939	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147358141	chr16:82685995-82685996	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558169369	chr16:82686003-82686004	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137871432	chr16:82686004-82686005	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534144684	chr16:82686023-82686024	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144107666	chr16:82686053-82686054	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144366360	chr16:82686071-82686072	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544748975	chr16:82686081-82686082	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562959443	chr16:82686086-82686087	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184665338	chr16:82686093-82686094	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3852732	chr16:82686111-82686112	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs8051643	chr16:82686129-82686130	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527557830	chr16:82686149-82686150	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540908735	chr16:82686171-82686172	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548770196	chr16:82686173-82686174	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560783201	chr16:82686217-82686218	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116946429	chr16:82686229-82686230	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376687046	chr16:82686233-82686234	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67758972	chr16:82686234-82686235	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72344411	chr16:82686244-82686245	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35661989	chr16:82686264-82686265	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562074115	chr16:82686280-82686281	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570961891	chr16:82686293-82686294	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16958008	chr16:82686294-82686295	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547335158	chr16:82686298-82686299	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10719140	chr16:82686312-82686313	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567073467	chr16:82686315-82686316	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188402613	chr16:82686323-82686324	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79470715	chr16:82686325-82686326	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200789286	chr16:82686329-82686330	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148796921	chr16:82686342-82686343	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142427010	chr16:82686390-82686391	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8056787	chr16:82686392-82686393	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567192309	chr16:82686405-82686406	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377202709	chr16:82686440-82686441	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368886035	chr16:82686443-82686444	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545096582	chr16:82686460-82686461	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560564648	chr16:82686494-82686495	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150874485	chr16:82686500-82686501	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13333080	chr16:82686560-82686561	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560847413	chr16:82686579-82686580	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559112298	chr16:82686590-82686591	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139641205	chr16:82686605-82686606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
2	chr16:82678000-82687000	Weak transcription	Lung	lung
3	chr16:82678400-82687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82679200-82686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:82679400-82686800	Weak transcription	Fetal Heart	heart
6	chr16:82679800-82687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:82681000-82685800	Weak transcription	Right Ventricle	heart
8	chr16:82681200-82687000	Weak transcription	Colonic Mucosa	Colon
9	chr16:82682200-82687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:82682800-82689400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:82683000-82690000	Enhancers	Psoas Muscle	Psoas
12	chr16:82683000-82694200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr16:82683000-82694800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr16:82683200-82692200	Enhancers	Thymus	Thymus
15	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr16:82683400-82691800	Enhancers	Primary T cells from cord blood	blood
17	chr16:82683600-82686200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr16:82683600-82690400	Enhancers	Fetal Thymus	thymus
19	chr16:82683600-82694200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr16:82683800-82685800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:82683800-82686800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:82684000-82692400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr16:82684400-82685800	Weak transcription	NH-A	brain
24	chr16:82684400-82687000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:82684400-82689800	Flanking Active TSS	GM12878-XiMat	blood
26	chr16:82684600-82687000	Weak transcription	Aorta	Aorta
27	chr16:82684600-82687200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:82684600-82687200	Weak transcription	Esophagus	oesophagus
29	chr16:82684800-82687200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:82685000-82686400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr16:82685000-82689200	Enhancers	Small Intestine	intestine
32	chr16:82685000-82690400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr16:82685200-82685800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr16:82685200-82686000	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr16:82685200-82686000	Enhancers	Right Atrium	heart
36	chr16:82685200-82686600	Enhancers	NHEK	skin
37	chr16:82685200-82686800	Enhancers	HMEC	breast
38	chr16:82685200-82687000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:82685200-82687400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:82685200-82688200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr16:82685200-82688200	Enhancers	Primary B cells from peripheral blood	blood
42	chr16:82685200-82689600	Enhancers	Fetal Intestine Large	intestine
43	chr16:82685200-82689800	Enhancers	Fetal Intestine Small	intestine
44	chr16:82685200-82689800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr16:82685200-82690400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:82685200-82691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:82685400-82685800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr16:82685400-82685800	Enhancers	Left Ventricle	heart
49	chr16:82685400-82685800	Weak transcription	Osteobl	bone
50	chr16:82685400-82686000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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