Variant report

Variant	nsv1064621
Chromosome Location	chr21:16881027-16937290
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:7)
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	chr21:16582142..16583084-chr21:16919391..16920395,4	MCF-7	breast:
2	chr21:16851669..16854505-chr21:16929396..16930897,2	MCF-7	breast:
3	chr21:16909677..16914012-chr21:16918687..16921004,3	MCF-7	breast:
4	chr21:16899768..16901686-chr21:16905215..16907866,2	K562	blood:
5	chr21:16880501..16882055-chr21:16883399..16885226,2	MCF-7	breast:
6	chr21:16339290..16342018-chr21:16922102..16924316,2	MCF-7	breast:
7	chr21:16918481..16920234-chr21:16923318..16925112,2	MCF-7	breast:
8	chr21:16436298..16438931-chr21:16935444..16937657,2	MCF-7	breast:
9	chr21:16909677..16914012-chr21:16918687..16921004,3	MCF-7	breast:
10	chr21:16925515..16927155-chr21:16928055..16930658,2	MCF-7	breast:
11	chr21:16864227..16867131-chr21:16888537..16890334,2	MCF-7	breast:
12	chr21:16919601..16920251-chr21:16958950..16959914,3	MCF-7	breast:
13	chr21:16435793..16439229-chr21:16922155..16925068,5	MCF-7	breast:
14	chr21:16907370..16908917-chr21:16935643..16937758,2	K562	blood:
15	chr21:16907370..16908917-chr21:16935643..16937758,2	K562	blood:
16	chr21:16931419..16933182-chr21:16935241..16937836,2	MCF-7	breast:
17	chr21:16912535..16914166-chr21:16914818..16917552,2	MCF-7	breast:
18	chr21:16919633..16920412-chr21:16959232..16959914,4	MCF-7	breast:
19	chr21:16919441..16920015-chr21:16959232..16959755,2	MCF-7	breast:
20	chr21:16931419..16933182-chr21:16935241..16937836,2	MCF-7	breast:
21	chr21:16936242..16938072-chr21:16938632..16941243,2	MCF-7	breast:
22	chr21:16918481..16920234-chr21:16923318..16925112,2	MCF-7	breast:
23	chr21:16925515..16927155-chr21:16928055..16930658,2	MCF-7	breast:
24	chr21:16899768..16901686-chr21:16905215..16907866,2	K562	blood:
25	chr21:16912535..16914166-chr21:16914818..16917552,2	MCF-7	breast:
26	chr21:16932624..16935111-chr21:16937107..16938655,2	K562	blood:
27	chr21:16880501..16882055-chr21:16883399..16885226,2	MCF-7	breast:
28	chr21:16436565..16439043-chr21:16887859..16890632,2	MCF-7	breast:
29	chr21:16932624..16935111-chr21:16937107..16938655,2	K562	blood:
30	chr21:16582273..16583330-chr21:16919552..16920500,4	MCF-7	breast:
31	chr21:16930194..16932868-chr21:16938815..16941325,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP25-4	chr21:16925631-16925679	NONHSAT081205
2	lnc-USP25-5	chr21:16883875-16883978	l_2173_chr21:16882815-16883978_brain
3	lnc-USP25-5	chr21:16883544-16883870	l_2173_chr21:16882815-16883978_brain
4	lnc-USP25-5	chr21:16882816-16883306	l_2173_chr21:16882815-16883978_brain
5	lnc-USP25-4	chr21:16925017-16925162	NONHSAT081204
6	lnc-USP25-4	chr21:16934420-16934823	NONHSAT081204
7	lnc-USP25-4	chr21:16934420-16934873	NONHSAT081205

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 2324 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2324 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530499842	chr21:16881027-16881028	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149006062	chr21:16881056-16881057	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563913732	chr21:16881082-16881083	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368595518	chr21:16881090-16881091	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546280716	chr21:16881102-16881103	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73892629	chr21:16881141-16881142	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535784136	chr21:16881148-16881149	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557986817	chr21:16881161-16881162	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571608737	chr21:16881191-16881192	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62217397	chr21:16881208-16881209	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs560891344	chr21:16881274-16881275	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554358385	chr21:16881287-16881288	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537139794	chr21:16881294-16881295	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs9979451	chr21:16881372-16881373	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577270186	chr21:16881387-16881388	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs539793882	chr21:16881392-16881393	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552963738	chr21:16881409-16881410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573184043	chr21:16881412-16881413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57331457	chr21:16881422-16881423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555537333	chr21:16881435-16881436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9305646	chr21:16881436-16881437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544486308	chr21:16881468-16881469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151246192	chr21:16881550-16881551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376818795	chr21:16881555-16881556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532902575	chr21:16881574-16881575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540220095	chr21:16881596-16881597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62217398	chr21:16881643-16881644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529202724	chr21:16881667-16881668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576148113	chr21:16881685-16881686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373166604	chr21:16881689-16881690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117272012	chr21:16881716-16881717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371572080	chr21:16881736-16881737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374471446	chr21:16881772-16881773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9980615	chr21:16881782-16881783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74905342	chr21:16881808-16881809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145611369	chr21:16881811-16881812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375230347	chr21:16881821-16881822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188516759	chr21:16881827-16881828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7275233	chr21:16881850-16881851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566573222	chr21:16881863-16881864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535735289	chr21:16881892-16881893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555596709	chr21:16881905-16881906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7283642	chr21:16881927-16881928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147721158	chr21:16882057-16882058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558104114	chr21:16882060-16882061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7275540	chr21:16882061-16882062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142500454	chr21:16882097-16882098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62217399	chr21:16882111-16882112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs369740497	chr21:16882168-16882169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146962543	chr21:16882198-16882199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16880200-16881400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr21:16880400-16881800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr21:16880400-16881800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:16880400-16882200	Enhancers	Dnd41	blood
5	chr21:16880600-16881800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr21:16880600-16882200	Enhancers	HepG2	liver
7	chr21:16880800-16881400	Enhancers	Primary B cells from peripheral blood	blood
8	chr21:16880800-16881400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:16880800-16881600	Enhancers	Primary T cells from cord blood	blood
10	chr21:16880800-16881600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16880800-16881800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr21:16881000-16881400	Enhancers	Thymus	Thymus
13	chr21:16881000-16881800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr21:16881200-16881800	Enhancers	Fetal Thymus	thymus
15	chr21:16881400-16881800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:16881400-16885200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:16881400-16885400	Weak transcription	Thymus	Thymus
18	chr21:16881400-16886000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:16881600-16884600	Weak transcription	Primary T cells from cord blood	blood
20	chr21:16881600-16885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:16881800-16885000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:16881800-16885200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr21:16881800-16885200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr21:16881800-16885200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:16881800-16885400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr21:16881800-16885400	Weak transcription	Fetal Thymus	thymus
27	chr21:16881800-16886200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:16882200-16884800	Weak transcription	Dnd41	blood
29	chr21:16882200-16885400	Weak transcription	HepG2	liver
30	chr21:16883800-16884600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr21:16884000-16884400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr21:16884000-16884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr21:16884000-16884400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr21:16884600-16886200	Enhancers	Primary T cells from cord blood	blood
35	chr21:16884800-16886400	Enhancers	Dnd41	blood
36	chr21:16885000-16886400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr21:16885200-16886400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr21:16885200-16886400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr21:16885200-16886400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:16885200-16886600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr21:16885200-16887800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr21:16885400-16886200	Enhancers	HepG2	liver
43	chr21:16885400-16886400	Enhancers	Primary B cells from cord blood	blood
44	chr21:16885400-16886800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr21:16885400-16886800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr21:16885400-16887200	Enhancers	Thymus	Thymus
47	chr21:16885400-16887400	Enhancers	Fetal Thymus	thymus
48	chr21:16885600-16886600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:16885800-16886000	Enhancers	GM12878-XiMat	blood
50	chr21:16885800-16886200	Active TSS	Primary hematopoietic stem cells	blood

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