Variant report

Variant	nsv913398
Chromosome Location	chr21:15242552-15302686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:240)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:240 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:15295624-15295648	K562	blood:	n/a	n/a
2	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
3	BATF	chr21:15295169-15295585	GM12878	blood:	n/a	chr21:15295405-15295416
4	BATF	chr21:15295228-15295568	GM12878	blood:	n/a	chr21:15295405-15295416
5	BATF	chr21:15293789-15294119	GM12878	blood:	n/a	chr21:15293876-15293886
6	BATF	chr21:15293789-15294118	GM12878	blood:	n/a	chr21:15293876-15293886
7	BATF	chr21:15302414-15302611	GM12878	blood:	n/a	chr21:15302548-15302559
8	BCL11A	chr21:15293842-15294225	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:15295613-15295821	K562	blood:	n/a	n/a
10	CCNT2	chr21:15295624-15295806	K562	blood:	n/a	n/a
11	CEBPB	chr21:15277523-15277853	IMR90	lung:	n/a	chr21:15277673-15277684
12	CEBPB	chr21:15277580-15277731	HepG2	liver:	n/a	chr21:15277673-15277684
13	CEBPB	chr21:15277523-15277688	K562	blood:	n/a	chr21:15277673-15277684
14	CEBPB	chr21:15294348-15294556	IMR90	lung:	n/a	n/a
15	CEBPD	chr21:15295340-15295897	K562	blood:	n/a	n/a
16	CTCF	chr21:15252310-15252389	Lung_OC	lung:	n/a	n/a
17	CTCF	chr21:15248231-15248291	LNCaP	prostate:	n/a	n/a
18	CTCF	chr21:15302510-15302750	MCF-7	breast:	n/a	n/a
19	CTCF	chr21:15302543-15302631	K562	blood:	n/a	n/a
20	CTCF	chr21:15302640-15302790	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr21:15276230-15276275	GM13976	blood:	n/a	n/a
22	CTCF	chr21:15302540-15302690	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr21:15302456-15302656	IMR90	lung:	n/a	n/a
24	CTCF	chr21:15252140-15252204	LNCaP	prostate:	n/a	n/a
25	CTCF	chr21:15302567-15302615	Medullo	brain:	n/a	n/a
26	CTCF	chr21:15272673-15272747	GM13976	blood:	n/a	n/a
27	CTCF	chr21:15259092-15259146	GM10266	blood:	n/a	n/a
28	CTCF	chr21:15292952-15293068	GM13976	blood:	n/a	n/a
29	CTCF	chr21:15263041-15263087	GM13976	blood:	n/a	n/a
30	CTCF	chr21:15302533-15302739	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:15302640-15302790	MCF-7	breast:	n/a	n/a
32	CTCF	chr21:15302580-15302730	GM12864	blood:	n/a	n/a
33	CUX1	chr21:15295613-15295650	K562	blood:	n/a	n/a
34	EBF1	chr21:15295536-15295762	GM12878	blood:	n/a	n/a
35	EBF1	chr21:15295472-15295693	GM12878	blood:	n/a	n/a
36	EBF1	chr21:15293897-15294177	GM12878	blood:	n/a	n/a
37	EBF1	chr21:15288338-15288563	GM12878	blood:	n/a	n/a
38	EGR1	chr21:15246326-15246569	K562	blood:	n/a	n/a
39	EP300	chr21:15288281-15288569	GM12878	blood:	n/a	n/a
40	EP300	chr21:15293895-15294181	GM12878	blood:	n/a	n/a
41	EP300	chr21:15295626-15295642	HepG2	liver:	n/a	n/a
42	EP300	chr21:15295449-15295822	K562	blood:	n/a	n/a
43	EP300	chr21:15290539-15290743	GM12878	blood:	n/a	n/a
44	EP300	chr21:15293808-15294101	K562	blood:	n/a	n/a
45	EP300	chr21:15274819-15275091	GM12878	blood:	n/a	n/a
46	FOSL2	chr21:15295513-15295911	HepG2	liver:	n/a	n/a
47	FOSL2	chr21:15288189-15288527	HepG2	liver:	n/a	n/a
48	FOSL2	chr21:15272534-15272800	HepG2	liver:	n/a	n/a
49	FOSL2	chr21:15274024-15274251	HepG2	liver:	n/a	n/a
50	FOSL2	chr21:15274824-15275111	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
2	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129
3	lnc-POTED-11	chr21:15286426-15287046	NONHSAT081129

No data

Variant related genes	Relation type
SNX18P13	TF binding region

Extended variants
information (count: 4170 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4170 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4818658	chr21:15244823-15244824	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530014682	chr21:15244827-15244828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145349563	chr21:15244848-15244849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550138451	chr21:15244858-15244859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373649411	chr21:15244860-15244861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563297706	chr21:15244865-15244866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532337437	chr21:15244866-15244867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184905269	chr21:15244869-15244870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550997352	chr21:15244870-15244871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534451014	chr21:15244872-15244873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs4818659	chr21:15244894-15244895	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191076367	chr21:15244897-15244898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537308946	chr21:15244901-15244902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557238131	chr21:15244902-15244903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577341621	chr21:15244914-15244915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs118135030	chr21:15244915-15244916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553326023	chr21:15244925-15244926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573266869	chr21:15244940-15244941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542391031	chr21:15244944-15244945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182961687	chr21:15244945-15244946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112768810	chr21:15244951-15244952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10460739	chr21:15244959-15244960	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs71321924	chr21:15244960-15244961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561222908	chr21:15244970-15244971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543694669	chr21:15244971-15244972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529313243	chr21:15244986-15244987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs71327292	chr21:15244997-15244998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188453657	chr21:15245018-15245019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs71330009	chr21:15245020-15245021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566597612	chr21:15245046-15245047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545960868	chr21:15245048-15245049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559310711	chr21:15245050-15245051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs71327293	chr21:15245058-15245059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191498310	chr21:15245068-15245069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs71327294	chr21:15245075-15245076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs547891850	chr21:15245076-15245077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs71327295	chr21:15245078-15245079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567674316	chr21:15245088-15245089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530449410	chr21:15245092-15245093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149204118	chr21:15245095-15245096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs71327296	chr21:15245096-15245097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143336490	chr21:15245099-15245100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539772864	chr21:15245110-15245111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs71321925	chr21:15245114-15245115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs183158074	chr21:15245116-15245117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187559031	chr21:15245131-15245132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs71327297	chr21:15245136-15245137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371612978	chr21:15245150-15245151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192423172	chr21:15245152-15245153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555899964	chr21:15245157-15245158	ZNF genes & repeats	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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr21:15245200-15246200	Weak transcription	Dnd41	blood
3	chr21:15246200-15247600	Enhancers	Dnd41	blood
4	chr21:15247600-15256200	Weak transcription	Dnd41	blood
5	chr21:15249400-15250200	Enhancers	K562	blood
6	chr21:15250200-15250600	Weak transcription	K562	blood
7	chr21:15250600-15250800	Enhancers	K562	blood
8	chr21:15250800-15252400	Weak transcription	K562	blood
9	chr21:15252400-15253000	Enhancers	K562	blood
10	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
11	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
12	chr21:15256200-15256600	Enhancers	Dnd41	blood
13	chr21:15256600-15265600	Weak transcription	Dnd41	blood
14	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
15	chr21:15265600-15267000	Enhancers	Dnd41	blood
16	chr21:15269000-15269400	Enhancers	K562	blood
17	chr21:15269200-15269400	Enhancers	Lung	lung
18	chr21:15269200-15269400	Enhancers	A549	lung
19	chr21:15270000-15270400	Active TSS	Fetal Heart	heart
20	chr21:15275200-15276000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:15276000-15278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:15277000-15281400	Weak transcription	Esophagus	oesophagus
23	chr21:15277000-15292200	Weak transcription	Dnd41	blood
24	chr21:15292200-15296200	Enhancers	Dnd41	blood
25	chr21:15292800-15293200	Enhancers	K562	blood
26	chr21:15293200-15293600	Weak transcription	K562	blood
27	chr21:15293600-15296200	Enhancers	K562	blood
28	chr21:15295200-15295800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:15295200-15296200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr21:15295200-15296200	Enhancers	HMEC	breast
31	chr21:15295400-15295800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr21:15296200-15298000	Weak transcription	K562	blood
33	chr21:15296200-15307200	Weak transcription	Dnd41	blood
34	chr21:15298000-15298200	Enhancers	K562	blood
35	chr21:15301600-15308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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