Variant report

Variant	nsv459097
Chromosome Location	chr21:15886919-15902978
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:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
2	chr21:15875519..15877306-chr21:15885573..15888247,2	K562	blood:
3	chr21:15883124..15887603-chr21:15889415..15891209,4	K562	blood:
4	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
5	chr21:15901318..15902999-chr21:16086127..16088877,2	K562	blood:
6	chr21:15883124..15887603-chr21:15889415..15891209,4	K562	blood:
7	chr21:15870384..15874520-chr21:15900850..15905377,4	K562	blood:
8	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
9	chr21:15881208..15883540-chr21:15886975..15889188,2	K562	blood:
10	chr21:15885068..15887603-chr21:15887779..15891209,3	K562	blood:
11	chr21:15898174..15900938-chr21:15917034..15919951,2	K562	blood:
12	chr21:15882543..15884938-chr21:15891850..15893710,2	K562	blood:
13	chr21:15885068..15887603-chr21:15887779..15891209,3	K562	blood:
14	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
15	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
16	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
17	chr21:15885414..15887800-chr21:16108116..16110605,2	K562	blood:
18	chr21:15870384..15873192-chr21:15902797..15905377,2	K562	blood:
19	chr21:15872479..15875273-chr21:15885613..15887603,2	K562	blood:
20	chr21:15882543..15885229-chr21:15891850..15893526,2	K562	blood:
21	chr21:15882752..15884455-chr21:15884908..15886969,2	K562	blood:
22	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
23	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
24	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF165138.7.1-4	chr21:15893494-15893542	NONHSAT081164
2	lnc-AF165138.7.1-4	chr21:15895592-15895715	NONHSAT081164

No data

Variant related genes	Relation type
ENSG00000155307	chromatin interactions

Extended variants
information (count: 769 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2822712	chr21:15886919-15886920	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186920243	chr21:15886932-15886933	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144070799	chr21:15886934-15886935	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7282220	chr21:15886950-15886951	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7282239	chr21:15886991-15886992	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537317935	chr21:15887069-15887070	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140531604	chr21:15887114-15887115	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117996656	chr21:15887140-15887141	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144377911	chr21:15887202-15887203	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs573907823	chr21:15887205-15887206	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6516844	chr21:15887223-15887224	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147486582	chr21:15887229-15887230	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373715010	chr21:15887241-15887242	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376975801	chr21:15887262-15887263	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2822713	chr21:15887279-15887280	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs139929083	chr21:15887292-15887293	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572602733	chr21:15887295-15887296	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2822714	chr21:15887298-15887299	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs190201000	chr21:15887317-15887318	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573736401	chr21:15887327-15887328	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574823299	chr21:15887360-15887361	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182829156	chr21:15887378-15887379	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562960097	chr21:15887398-15887399	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542428287	chr21:15887403-15887404	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532083878	chr21:15887435-15887436	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545888186	chr21:15887512-15887513	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559244513	chr21:15887517-15887518	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112849246	chr21:15887519-15887520	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs991249	chr21:15887545-15887546	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs377020103	chr21:15887576-15887577	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575336496	chr21:15887590-15887591	Strong transcription Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544158269	chr21:15887629-15887630	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568337815	chr21:15887636-15887637	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73173205	chr21:15887701-15887702	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550161174	chr21:15887702-15887703	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386816445	chr21:15887745-15887746	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2049859	chr21:15887747-15887748	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs2049860	chr21:15887802-15887803	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs141116592	chr21:15887836-15887837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149845594	chr21:15887896-15887897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554778716	chr21:15887899-15887900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13046027	chr21:15887914-15887915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560857162	chr21:15887915-15887916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529482832	chr21:15887946-15887947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556274336	chr21:15887959-15887960	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73173209	chr21:15887981-15887982	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188264494	chr21:15888012-15888013	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535994245	chr21:15888072-15888073	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576785069	chr21:15888076-15888077	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376581496	chr21:15888096-15888097	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15862600-15889400	Strong transcription	Dnd41	blood
3	chr21:15867000-15890600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:15873400-15891000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:15875800-15894000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:15878000-15890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:15879200-15892600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:15879400-15889400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:15879400-15892800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:15879600-15888800	Strong transcription	Primary B cells from cord blood	blood
11	chr21:15879800-15892800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr21:15880800-15892800	Strong transcription	K562	blood
13	chr21:15881600-15891000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr21:15881800-15888800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:15881800-15893600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr21:15882000-15888800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr21:15882000-15889000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr21:15882200-15890200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:15882800-15887600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr21:15883000-15892800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr21:15883200-15892800	Weak transcription	Thymus	Thymus
22	chr21:15883200-15893200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
24	chr21:15883600-15888800	Strong transcription	GM12878-XiMat	blood
25	chr21:15883600-15895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:15883800-15888200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr21:15884000-15888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr21:15884400-15892800	Weak transcription	Fetal Thymus	thymus
29	chr21:15884600-15889200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr21:15886000-15888200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr21:15886200-15891000	Strong transcription	Primary T cells from cord blood	blood
32	chr21:15886400-15887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:15886400-15888400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr21:15886600-15891000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:15887600-15887800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr21:15887600-15889400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr21:15887800-15888000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr21:15888000-15888600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:15888000-15889600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr21:15888200-15888800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:15888200-15889400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr21:15888400-15889200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:15888600-15889000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:15888800-15889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:15888800-15890800	ZNF genes & repeats	GM12878-XiMat	blood
46	chr21:15888800-15891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:15888800-15892600	Weak transcription	Primary B cells from cord blood	blood
48	chr21:15888800-15892800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr21:15889000-15891000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr21:15889000-15892800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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