Variant report

Variant	nsv471100
Chromosome Location	chr16:79893737-79926134
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
2	chr16:79924695..79926567-chr16:79927606..79930494,2	MCF-7	breast:
3	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
4	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
5	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
6	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
7	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
8	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
9	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
10	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
11	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
12	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
13	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
14	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
15	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
16	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
17	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
18	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
19	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
20	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
21	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
22	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
23	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
24	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
25	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
26	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
27	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
28	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
29	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
30	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
31	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
32	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
33	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:

No data

Extended variants
information (count: 2205 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2205 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9939391	chr16:79893737-79893738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561803880	chr16:79893782-79893783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191510319	chr16:79893814-79893815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529029456	chr16:79893834-79893835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4429308	chr16:79893846-79893847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144516581	chr16:79893848-79893849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533369357	chr16:79893849-79893850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74038046	chr16:79893866-79893867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566858157	chr16:79893884-79893885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527450344	chr16:79893892-79893893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139845649	chr16:79893895-79893896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74038047	chr16:79893901-79893902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185685518	chr16:79893904-79893905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116203301	chr16:79893905-79893906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554672126	chr16:79893919-79893920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567581010	chr16:79893922-79893923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556621651	chr16:79893937-79893938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74899896	chr16:79893940-79893941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546038026	chr16:79893948-79893949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117911996	chr16:79893950-79893951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73574064	chr16:79893981-79893982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370544946	chr16:79893983-79893984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190052952	chr16:79894019-79894020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373579950	chr16:79894036-79894037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549791493	chr16:79894040-79894041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146887213	chr16:79894043-79894044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368021806	chr16:79894062-79894063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543941467	chr16:79894075-79894076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562257318	chr16:79894079-79894080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141132628	chr16:79894086-79894087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533331352	chr16:79894093-79894094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4073001	chr16:79894094-79894095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182709875	chr16:79894151-79894152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528017873	chr16:79894175-79894176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558199558	chr16:79894176-79894177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549660541	chr16:79894189-79894190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186658020	chr16:79894196-79894197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144231595	chr16:79894219-79894220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76764792	chr16:79894230-79894231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79129628	chr16:79894239-79894240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539624391	chr16:79894254-79894255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7195238	chr16:79894256-79894257	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554050046	chr16:79894257-79894258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574321045	chr16:79894258-79894259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78389434	chr16:79894270-79894271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113737253	chr16:79894274-79894275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573167446	chr16:79894285-79894286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575992208	chr16:79894292-79894293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74038048	chr16:79894314-79894315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149166377	chr16:79894327-79894328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79892800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:79893000-79894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:79893000-79894200	Enhancers	Primary hematopoietic stem cells	blood
4	chr16:79893000-79894600	Enhancers	Fetal Thymus	thymus
5	chr16:79893200-79893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:79893200-79893800	Enhancers	Fetal Lung	lung
7	chr16:79893400-79894000	Weak transcription	GM12878-XiMat	blood
8	chr16:79893800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:79894000-79894200	Enhancers	Esophagus	oesophagus
10	chr16:79894000-79894200	Enhancers	GM12878-XiMat	blood
11	chr16:79894200-79896400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr16:79894200-79897400	Weak transcription	GM12878-XiMat	blood
13	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:79894600-79896600	Weak transcription	Fetal Thymus	thymus
16	chr16:79896400-79899600	Enhancers	Primary hematopoietic stem cells	blood
17	chr16:79896600-79897800	Enhancers	Liver	Liver
18	chr16:79896600-79898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:79896600-79899200	Enhancers	Fetal Thymus	thymus
20	chr16:79896600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:79896800-79897800	Enhancers	K562	blood
22	chr16:79897000-79899200	Enhancers	Dnd41	blood
23	chr16:79897200-79899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr16:79897200-79899200	Enhancers	Primary T cells from cord blood	blood
25	chr16:79897200-79899400	Enhancers	Thymus	Thymus
26	chr16:79897400-79897600	Enhancers	GM12878-XiMat	blood
27	chr16:79897800-79898400	Flanking Active TSS	K562	blood
28	chr16:79898000-79898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:79898200-79898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:79898400-79898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:79898400-79898800	Enhancers	K562	blood
32	chr16:79898600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:79898800-79899000	Flanking Active TSS	K562	blood
34	chr16:79898800-79899200	Enhancers	Right Atrium	heart
35	chr16:79899000-79900200	Enhancers	K562	blood
36	chr16:79900200-79900800	Weak transcription	K562	blood
37	chr16:79900800-79903000	ZNF genes & repeats	K562	blood
38	chr16:79901400-79901600	Enhancers	Thymus	Thymus
39	chr16:79903000-79903200	Enhancers	K562	blood
40	chr16:79903200-79903600	Flanking Active TSS	K562	blood
41	chr16:79903600-79903800	Active TSS	K562	blood
42	chr16:79903800-79904000	Flanking Active TSS	K562	blood
43	chr16:79904000-79904400	Transcr. at gene 5' and 3'	K562	blood
44	chr16:79904200-79904800	Active TSS	Spleen	Spleen
45	chr16:79904400-79905200	ZNF genes & repeats	K562	blood
46	chr16:79904800-79911200	Weak transcription	Spleen	Spleen
47	chr16:79905200-79906000	Enhancers	Brain Germinal Matrix	brain
48	chr16:79905200-79908000	Weak transcription	K562	blood
49	chr16:79907400-79909200	Enhancers	Duodenum Mucosa	Duodenum
50	chr16:79907600-79908800	Enhancers	NHEK	skin

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