Variant report

Variant	nsv906993
Chromosome Location	chr16:79883850-79923310
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
2	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
3	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
4	chr16:79879070..79882404-chr16:79882481..79885760,4	K562	blood:
5	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
6	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
7	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
8	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
9	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
10	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
11	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
12	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
13	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
14	chr16:79890476..79892006-chr16:79935047..79937129,2	K562	blood:
15	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
16	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
17	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
18	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
19	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
20	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
21	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
22	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
23	chr16:79881818..79884623-chr16:80099002..80101726,2	K562	blood:
24	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
25	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
26	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
27	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
28	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
29	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
30	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
31	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
32	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
33	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
34	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
35	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
36	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260706	chromatin interactions

Extended variants
information (count: 2266 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2266 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11649129	chr16:79883850-79883851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74038043	chr16:79883892-79883893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551065475	chr16:79883913-79883914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373925755	chr16:79883937-79883938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140904713	chr16:79883954-79883955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377517130	chr16:79883969-79883970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537553792	chr16:79883984-79883985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185697605	chr16:79883996-79883997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190066768	chr16:79884008-79884009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369729559	chr16:79884020-79884021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138959919	chr16:79884049-79884050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567254564	chr16:79884069-79884070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541005944	chr16:79884074-79884075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78986007	chr16:79884075-79884076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538023050	chr16:79884085-79884086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549978607	chr16:79884086-79884087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369572683	chr16:79884090-79884091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs75543957	chr16:79884102-79884103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538974788	chr16:79884147-79884148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112832477	chr16:79884163-79884164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144645218	chr16:79884175-79884176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572364071	chr16:79884190-79884191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536253456	chr16:79884193-79884194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555017211	chr16:79884211-79884212	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576623776	chr16:79884212-79884213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs386792708	chr16:79884220-79884221	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138971689	chr16:79884265-79884266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577993818	chr16:79884283-79884284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117077340	chr16:79884294-79884295	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545623022	chr16:79884304-79884305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs16951536	chr16:79884366-79884367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182703807	chr16:79884403-79884404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371374183	chr16:79884414-79884415	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73574039	chr16:79884425-79884426	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531340375	chr16:79884456-79884457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111874632	chr16:79884508-79884509	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73574040	chr16:79884524-79884525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187727944	chr16:79884540-79884541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35972919	chr16:79884574-79884575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538856642	chr16:79884612-79884613	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548023195	chr16:79884616-79884617	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566265006	chr16:79884618-79884619	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536612485	chr16:79884648-79884649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566568820	chr16:79884650-79884651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59148407	chr16:79884654-79884655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200858302	chr16:79884684-79884685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554698187	chr16:79884685-79884686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147944978	chr16:79884698-79884699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201513770	chr16:79884704-79884705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374093804	chr16:79884706-79884707	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79879600-79885200	Enhancers	Thymus	Thymus
2	chr16:79879800-79884600	Enhancers	Fetal Thymus	thymus
3	chr16:79880600-79884800	Enhancers	NHEK	skin
4	chr16:79880800-79885200	Enhancers	Colon Smooth Muscle	Colon
5	chr16:79883000-79884000	Enhancers	GM12878-XiMat	blood
6	chr16:79883200-79884000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:79883200-79884400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:79883400-79884400	Enhancers	Primary T cells from cord blood	blood
9	chr16:79883400-79884600	Weak transcription	Esophagus	oesophagus
10	chr16:79883600-79884600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr16:79883600-79884800	Enhancers	Fetal Lung	lung
12	chr16:79884200-79885000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:79884600-79884800	Enhancers	Esophagus	oesophagus
14	chr16:79884600-79885200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr16:79890200-79891000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:79892800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:79893000-79893200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:79893000-79894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:79893000-79894200	Enhancers	Primary hematopoietic stem cells	blood
20	chr16:79893000-79894600	Enhancers	Fetal Thymus	thymus
21	chr16:79893200-79893400	Enhancers	Esophagus	oesophagus
22	chr16:79893200-79893400	Enhancers	GM12878-XiMat	blood
23	chr16:79893200-79893800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:79893200-79893800	Enhancers	Fetal Lung	lung
25	chr16:79893400-79894000	Weak transcription	GM12878-XiMat	blood
26	chr16:79893800-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:79894000-79894200	Enhancers	Esophagus	oesophagus
28	chr16:79894000-79894200	Enhancers	GM12878-XiMat	blood
29	chr16:79894200-79896400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:79894200-79897400	Weak transcription	GM12878-XiMat	blood
31	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:79894600-79896600	Weak transcription	Fetal Thymus	thymus
34	chr16:79896400-79899600	Enhancers	Primary hematopoietic stem cells	blood
35	chr16:79896600-79897800	Enhancers	Liver	Liver
36	chr16:79896600-79898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:79896600-79899200	Enhancers	Fetal Thymus	thymus
38	chr16:79896600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:79896800-79897800	Enhancers	K562	blood
40	chr16:79897000-79899200	Enhancers	Dnd41	blood
41	chr16:79897200-79899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr16:79897200-79899200	Enhancers	Primary T cells from cord blood	blood
43	chr16:79897200-79899400	Enhancers	Thymus	Thymus
44	chr16:79897400-79897600	Enhancers	GM12878-XiMat	blood
45	chr16:79897800-79898400	Flanking Active TSS	K562	blood
46	chr16:79898000-79898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:79898200-79898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:79898400-79898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:79898400-79898800	Enhancers	K562	blood
50	chr16:79898600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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