Variant report

Variant	nsv587047
Chromosome Location	chr21:15896422-15906590
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15904288..15906853-chr21:15912996..15915455,2	K562	blood:
2	chr21:15901318..15902999-chr21:16086127..16088877,2	K562	blood:
3	chr21:15870384..15874520-chr21:15900850..15905377,4	K562	blood:
4	chr21:15905941..15908063-chr21:15951429..15954293,3	K562	blood:
5	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
6	chr21:15904847..15906603-chr21:16029430..16031380,2	K562	blood:
7	chr21:15904847..15907317-chr21:16028940..16030930,2	K562	blood:
8	chr21:15903442..15906073-chr21:15908786..15911014,2	K562	blood:
9	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
10	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
11	chr20:57606873..57607444-chr21:15903062..15903984,2	MCF-7	breast:
12	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
13	chr21:15898174..15900938-chr21:15917034..15919951,2	K562	blood:
14	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
15	chr21:15904966..15908708-chr21:15954963..15957807,4	K562	blood:
16	chr21:15870384..15873192-chr21:15902797..15905377,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243440	chromatin interactions
ENSG00000155307	chromatin interactions
ENSG00000124172	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2822727	chr21:15896422-15896423	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574542382	chr21:15896464-15896465	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143106718	chr21:15896507-15896508	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2822728	chr21:15896516-15896517	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567128840	chr21:15896518-15896519	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188022070	chr21:15896528-15896529	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148336473	chr21:15896547-15896548	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560162564	chr21:15896552-15896553	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192691747	chr21:15896564-15896565	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546065438	chr21:15896585-15896586	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141462054	chr21:15896586-15896587	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76961776	chr21:15896595-15896596	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371887797	chr21:15896633-15896634	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184685535	chr21:15896639-15896640	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35969431	chr21:15896696-15896697	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66748730	chr21:15896697-15896698	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534289900	chr21:15896698-15896699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554365043	chr21:15896699-15896700	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574165862	chr21:15896700-15896701	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542896312	chr21:15896701-15896702	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187197152	chr21:15896710-15896711	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74608483	chr21:15896711-15896712	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544573677	chr21:15896712-15896713	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548405569	chr21:15896754-15896755	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564563529	chr21:15896760-15896761	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116072670	chr21:15896784-15896785	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146312107	chr21:15896877-15896878	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530206145	chr21:15896880-15896881	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550344226	chr21:15896893-15896894	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192005975	chr21:15896947-15896948	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529897584	chr21:15896966-15896967	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138192902	chr21:15896997-15896998	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569917784	chr21:15897026-15897027	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570009460	chr21:15897033-15897034	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547942541	chr21:15897051-15897052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184627179	chr21:15897065-15897066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142730645	chr21:15897082-15897083	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571676319	chr21:15897145-15897146	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369991723	chr21:15897190-15897191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538691086	chr21:15897231-15897232	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559170253	chr21:15897262-15897263	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547907348	chr21:15897282-15897283	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189391124	chr21:15897304-15897305	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566246768	chr21:15897318-15897319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372367348	chr21:15897335-15897336	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182546009	chr21:15897361-15897362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556492411	chr21:15897371-15897372	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576650083	chr21:15897379-15897380	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376974044	chr21:15897425-15897426	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs2822730	chr21:15897444-15897445	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	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:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
3	chr21:15893000-15899400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr21:15893200-15898600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:15894000-15897800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr21:15894200-15899200	Weak transcription	Thymus	Thymus
7	chr21:15895200-15896600	Flanking Active TSS	GM12878-XiMat	blood
8	chr21:15895200-15897400	Genic enhancers	K562	blood
9	chr21:15895800-15898600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr21:15896000-15896800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr21:15896000-15897800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:15896000-15898400	Weak transcription	Primary B cells from cord blood	blood
13	chr21:15896200-15897000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15896200-15897000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:15896200-15897400	Weak transcription	Primary T cells from cord blood	blood
16	chr21:15896200-15897400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:15896200-15897400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:15896200-15897600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:15896200-15898200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr21:15896200-15898200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr21:15896200-15898200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:15896200-15898600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:15896200-15898800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr21:15896200-15899000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr21:15896200-15899000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr21:15896200-15899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:15896200-15899200	Enhancers	Dnd41	blood
28	chr21:15896200-15899600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:15896200-15904200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:15896200-15906200	Weak transcription	Fetal Thymus	thymus
31	chr21:15896400-15897000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr21:15896400-15897400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr21:15896600-15896800	Enhancers	GM12878-XiMat	blood
34	chr21:15896800-15897000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr21:15896800-15897000	Flanking Active TSS	GM12878-XiMat	blood
36	chr21:15897000-15897400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr21:15897000-15898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr21:15897000-15898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:15897000-15898600	Enhancers	GM12878-XiMat	blood
40	chr21:15897000-15899200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr21:15897400-15897600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr21:15897400-15897800	Transcr. at gene 5' and 3'	K562	blood
43	chr21:15897400-15899200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:15897400-15899600	Enhancers	Primary T cells from cord blood	blood
45	chr21:15897400-15901600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr21:15897400-15902200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr21:15897600-15898600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr21:15897600-15898600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr21:15897800-15898400	Active TSS	K562	blood
50	chr21:15897800-15899200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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