Variant report

Variant	nsv913410
Chromosome Location	chr21:15889553-15906590
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	chr21:15904288..15906853-chr21:15912996..15915455,2	K562	blood:
2	chr21:15885068..15887603-chr21:15887779..15891209,3	K562	blood:
3	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
4	chr20:57606873..57607444-chr21:15903062..15903984,2	MCF-7	breast:
5	chr21:15883124..15887603-chr21:15889415..15891209,4	K562	blood:
6	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
7	chr21:15870384..15874520-chr21:15900850..15905377,4	K562	blood:
8	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
9	chr21:15905941..15908063-chr21:15951429..15954293,3	K562	blood:
10	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
11	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
12	chr21:15882543..15885229-chr21:15891850..15893526,2	K562	blood:
13	chr21:15904847..15906603-chr21:16029430..16031380,2	K562	blood:
14	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
15	chr21:15882543..15884938-chr21:15891850..15893710,2	K562	blood:
16	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
17	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
18	chr21:15904847..15907317-chr21:16028940..16030930,2	K562	blood:
19	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
20	chr21:15898174..15900938-chr21:15917034..15919951,2	K562	blood:
21	chr21:15904966..15908708-chr21:15954963..15957807,4	K562	blood:
22	chr21:15870384..15873192-chr21:15902797..15905377,2	K562	blood:
23	chr21:15901318..15902999-chr21:16086127..16088877,2	K562	blood:
24	chr21:15903442..15906073-chr21:15908786..15911014,2	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
ENSG00000243440	chromatin interactions
ENSG00000124172	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:770 , 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	rs1028271	chr21:15889553-15889554	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142808596	chr21:15889570-15889571	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540076218	chr21:15889572-15889573	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543447786	chr21:15889604-15889605	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546986215	chr21:15889655-15889656	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376071844	chr21:15889658-15889659	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535438261	chr21:15889770-15889771	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183580639	chr21:15889771-15889772	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs73344180	chr21:15889824-15889825	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537961996	chr21:15889829-15889830	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs557886995	chr21:15889883-15889884	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577771036	chr21:15889909-15889910	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369189547	chr21:15889912-15889913	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373073969	chr21:15889929-15889930	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188318408	chr21:15889942-15889943	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs553781612	chr21:15889964-15889965	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573628153	chr21:15890019-15890020	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541808146	chr21:15890020-15890021	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570080555	chr21:15890049-15890050	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373413505	chr21:15890051-15890052	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191670121	chr21:15890058-15890059	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs544380105	chr21:15890060-15890061	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1028272	chr21:15890068-15890069	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533352776	chr21:15890069-15890070	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547219062	chr21:15890071-15890072	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200124239	chr21:15890073-15890074	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560578990	chr21:15890079-15890080	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs199534381	chr21:15890143-15890144	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529647846	chr21:15890170-15890171	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2822715	chr21:15890220-15890221	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538711810	chr21:15890227-15890228	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs1028273	chr21:15890233-15890234	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs537906979	chr21:15890242-15890243	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183812801	chr21:15890256-15890257	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571370483	chr21:15890319-15890320	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533728483	chr21:15890369-15890370	Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189905299	chr21:15890417-15890418	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147404214	chr21:15890435-15890436	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs9980520	chr21:15890440-15890441	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555292850	chr21:15890446-15890447	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs8134290	chr21:15890471-15890472	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs142757990	chr21:15890544-15890545	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140023018	chr21:15890559-15890560	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181563668	chr21:15890577-15890578	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149584801	chr21:15890629-15890630	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540453648	chr21:15890639-15890640	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144248305	chr21:15890641-15890642	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559020696	chr21:15890660-15890661	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572237327	chr21:15890676-15890677	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148722660	chr21:15890694-15890695	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	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:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15867000-15890600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:15873400-15891000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr21:15875800-15894000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr21:15878000-15890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:15879200-15892600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr21:15879400-15892800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr21:15879800-15892800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr21:15880800-15892800	Strong transcription	K562	blood
10	chr21:15881600-15891000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr21:15881800-15893600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:15882200-15890200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:15883000-15892800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr21:15883200-15892800	Weak transcription	Thymus	Thymus
15	chr21:15883200-15893200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
17	chr21:15883600-15895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr21:15884400-15892800	Weak transcription	Fetal Thymus	thymus
19	chr21:15886200-15891000	Strong transcription	Primary T cells from cord blood	blood
20	chr21:15886600-15891000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:15888000-15889600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr21:15888800-15890800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr21:15888800-15891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:15888800-15892600	Weak transcription	Primary B cells from cord blood	blood
25	chr21:15888800-15892800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr21:15889000-15891000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:15889000-15892800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr21:15889200-15889600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr21:15889200-15892800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:15889400-15890000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr21:15889400-15891000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:15889400-15892200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:15889400-15892600	Genic enhancers	Dnd41	blood
34	chr21:15889400-15893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:15889600-15891000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr21:15889600-15893000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:15890000-15890200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:15890200-15890400	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr21:15890200-15890800	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr21:15890200-15891400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr21:15890400-15890800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr21:15890600-15891000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr21:15890800-15891400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr21:15890800-15892200	Weak transcription	GM12878-XiMat	blood
45	chr21:15891000-15891200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr21:15891000-15891200	Genic enhancers	Monocytes-CD14+_RO01746	blood
47	chr21:15891000-15892400	Weak transcription	Primary T cells from cord blood	blood
48	chr21:15891000-15892400	Enhancers	Primary hematopoietic stem cells	blood
49	chr21:15891000-15892400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:15891000-15892400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links