Variant report

Variant	nsv573293
Chromosome Location	chr16:79896825-79926134
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1961 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1961 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4329930	chr16:79896825-79896826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78260952	chr16:79896852-79896853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558998853	chr16:79896856-79896857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192203188	chr16:79896870-79896871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558047049	chr16:79896878-79896879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572720517	chr16:79896892-79896893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566735483	chr16:79896893-79896894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183911093	chr16:79896896-79896897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561610299	chr16:79896898-79896899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573451822	chr16:79896901-79896902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188419444	chr16:79896904-79896905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141145102	chr16:79896946-79896947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562704789	chr16:79896993-79896994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533365556	chr16:79897040-79897041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545350350	chr16:79897043-79897044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192295943	chr16:79897070-79897071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560869454	chr16:79897081-79897082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9927882	chr16:79897087-79897088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373636723	chr16:79897142-79897143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184256439	chr16:79897189-79897190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567650600	chr16:79897197-79897198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531791178	chr16:79897236-79897237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140738348	chr16:79897248-79897249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569036984	chr16:79897253-79897254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539664118	chr16:79897261-79897262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76841562	chr16:79897267-79897268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78974598	chr16:79897268-79897269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150087225	chr16:79897286-79897287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189203770	chr16:79897323-79897324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573313428	chr16:79897365-79897366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543871893	chr16:79897370-79897371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535143374	chr16:79897399-79897400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555862930	chr16:79897400-79897401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577794874	chr16:79897405-79897406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558218810	chr16:79897409-79897410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75810851	chr16:79897411-79897412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117783514	chr16:79897423-79897424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528035601	chr16:79897425-79897426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542955096	chr16:79897435-79897436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138554918	chr16:79897436-79897437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113041931	chr16:79897466-79897467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370652295	chr16:79897469-79897470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562630291	chr16:79897471-79897472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115372635	chr16:79897476-79897477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181820344	chr16:79897481-79897482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141595481	chr16:79897486-79897487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551590180	chr16:79897499-79897500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74718533	chr16:79897515-79897516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534055560	chr16:79897580-79897581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555392465	chr16:79897581-79897582	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79894200-79897400	Weak transcription	GM12878-XiMat	blood
2	chr16:79896400-79899600	Enhancers	Primary hematopoietic stem cells	blood
3	chr16:79896600-79897800	Enhancers	Liver	Liver
4	chr16:79896600-79898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:79896600-79899200	Enhancers	Fetal Thymus	thymus
6	chr16:79896600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:79896800-79897800	Enhancers	K562	blood
8	chr16:79897000-79899200	Enhancers	Dnd41	blood
9	chr16:79897200-79899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr16:79897200-79899200	Enhancers	Primary T cells from cord blood	blood
11	chr16:79897200-79899400	Enhancers	Thymus	Thymus
12	chr16:79897400-79897600	Enhancers	GM12878-XiMat	blood
13	chr16:79897800-79898400	Flanking Active TSS	K562	blood
14	chr16:79898000-79898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:79898200-79898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:79898400-79898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:79898400-79898800	Enhancers	K562	blood
18	chr16:79898600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:79898800-79899000	Flanking Active TSS	K562	blood
20	chr16:79898800-79899200	Enhancers	Right Atrium	heart
21	chr16:79899000-79900200	Enhancers	K562	blood
22	chr16:79900200-79900800	Weak transcription	K562	blood
23	chr16:79900800-79903000	ZNF genes & repeats	K562	blood
24	chr16:79901400-79901600	Enhancers	Thymus	Thymus
25	chr16:79903000-79903200	Enhancers	K562	blood
26	chr16:79903200-79903600	Flanking Active TSS	K562	blood
27	chr16:79903600-79903800	Active TSS	K562	blood
28	chr16:79903800-79904000	Flanking Active TSS	K562	blood
29	chr16:79904000-79904400	Transcr. at gene 5' and 3'	K562	blood
30	chr16:79904200-79904800	Active TSS	Spleen	Spleen
31	chr16:79904400-79905200	ZNF genes & repeats	K562	blood
32	chr16:79904800-79911200	Weak transcription	Spleen	Spleen
33	chr16:79905200-79906000	Enhancers	Brain Germinal Matrix	brain
34	chr16:79905200-79908000	Weak transcription	K562	blood
35	chr16:79907400-79909200	Enhancers	Duodenum Mucosa	Duodenum
36	chr16:79907600-79908800	Enhancers	NHEK	skin
37	chr16:79908000-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:79908000-79910800	Enhancers	K562	blood
39	chr16:79908200-79908600	Enhancers	Liver	Liver
40	chr16:79908200-79908600	Enhancers	Fetal Muscle Trunk	muscle
41	chr16:79908200-79908600	Enhancers	Fetal Muscle Leg	muscle
42	chr16:79908200-79908600	Enhancers	Fetal Stomach	stomach
43	chr16:79908200-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:79908200-79908800	Enhancers	HMEC	breast
45	chr16:79908200-79909000	Enhancers	Small Intestine	intestine
46	chr16:79908400-79908600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:79908400-79908800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:79908400-79908800	Enhancers	Right Atrium	heart
49	chr16:79908400-79909600	Enhancers	Esophagus	oesophagus
50	chr16:79908400-79910200	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links