Variant report

Variant	nsv9851
Chromosome Location	chr21:15221055-15286468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr21:15249426-15249616	K562	blood:	n/a	n/a
2	BCL11A	chr21:15223481-15223715	GM12878	blood:	n/a	n/a
3	CEBPB	chr21:15277523-15277688	K562	blood:	n/a	chr21:15277673-15277684
4	CEBPB	chr21:15277580-15277731	HepG2	liver:	n/a	chr21:15277673-15277684
5	CEBPB	chr21:15277523-15277853	IMR90	lung:	n/a	chr21:15277673-15277684
6	CHD2	chr21:15227020-15227192	K562	blood:	n/a	n/a
7	CTCF	chr21:15252310-15252389	Lung_OC	lung:	n/a	n/a
8	CTCF	chr21:15233129-15233166	LNCaP	prostate:	n/a	n/a
9	CTCF	chr21:15223612-15223665	GM12891	blood:	n/a	n/a
10	CTCF	chr21:15248231-15248291	LNCaP	prostate:	n/a	n/a
11	CTCF	chr21:15234852-15234914	GM10248	blood:	n/a	n/a
12	CTCF	chr21:15252140-15252204	LNCaP	prostate:	n/a	n/a
13	CTCF	chr21:15276230-15276275	GM13976	blood:	n/a	n/a
14	CTCF	chr21:15234831-15234848	GM10248	blood:	n/a	n/a
15	CTCF	chr21:15263041-15263087	GM13976	blood:	n/a	n/a
16	CTCF	chr21:15259092-15259146	GM10266	blood:	n/a	n/a
17	CTCF	chr21:15223570-15223632	GM13977	blood:	n/a	n/a
18	CTCF	chr21:15232571-15232650	LNCaP	prostate:	n/a	n/a
19	CTCF	chr21:15272673-15272747	GM13976	blood:	n/a	n/a
20	CTCF	chr21:15233169-15233275	GM20000	blood:	n/a	n/a
21	CTCF	chr21:15224171-15224211	Kidney_OC	kidney:	n/a	n/a
22	EGR1	chr21:15246326-15246569	K562	blood:	n/a	n/a
23	EGR1	chr21:15223967-15224112	K562	blood:	n/a	chr21:15224061-15224068
24	ELF1	chr21:15226998-15227276	K562	blood:	n/a	n/a
25	EP300	chr21:15237106-15237393	GM12878	blood:	n/a	n/a
26	EP300	chr21:15274819-15275091	GM12878	blood:	n/a	n/a
27	FOS	chr21:15230093-15230172	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr21:15272534-15272800	HepG2	liver:	n/a	n/a
29	FOSL2	chr21:15223408-15223749	HepG2	liver:	n/a	n/a
30	FOSL2	chr21:15274024-15274251	HepG2	liver:	n/a	n/a
31	FOSL2	chr21:15238360-15238653	HepG2	liver:	n/a	n/a
32	FOSL2	chr21:15222113-15222542	HepG2	liver:	n/a	n/a
33	FOSL2	chr21:15257841-15258162	HepG2	liver:	n/a	n/a
34	FOSL2	chr21:15277904-15278650	HepG2	liver:	n/a	chr21:15278125-15278136
35	FOSL2	chr21:15274824-15275111	HepG2	liver:	n/a	n/a
36	FOSL2	chr21:15275535-15275823	HepG2	liver:	n/a	n/a
37	FOXA2	chr21:15268878-15269207	A549	lung:	n/a	n/a
38	FOXA2	chr21:15249284-15249688	A549	lung:	n/a	n/a
39	FOXA2	chr21:15249352-15249705	A549	lung:	n/a	n/a
40	FOXA2	chr21:15268895-15269235	A549	lung:	n/a	n/a
41	GATA2	chr21:15282155-15282395	K562	blood:	n/a	n/a
42	GATA2	chr21:15233215-15233432	K562	blood:	n/a	n/a
43	GATA3	chr21:15268911-15269311	MCF-7	breast:	n/a	n/a
44	GATA3	chr21:15268962-15269449	MCF-7	breast:	n/a	n/a
45	GATA3	chr21:15249339-15249766	MCF-7	breast:	n/a	n/a
46	GATA3	chr21:15268961-15269440	MCF-7	breast:	n/a	n/a
47	JUN	chr21:15277664-15277704	HepG2	liver:	n/a	chr21:15277674-15277687
48	JUND	chr21:15278423-15278640	HepG2	liver:	n/a	n/a
49	JUND	chr21:15257901-15258117	HepG2	liver:	n/a	n/a
50	JUND	chr21:15238358-15238523	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15221404-15221454	IMR90	lung:	fetal
2	chr21:15221404-15221454	HRCEpiC	kidney:	n/a
3	chr21:15221404-15221454	HAEpiC	amniotic membrane:	n/a
4	chr21:15221404-15221454	GM12892	blood:	n/a
5	chr21:15221404-15221454	U87	brain:	n/a
6	chr21:15221404-15221454	Hela-S3	cervix:	n/a
7	chr21:15221404-15221454	GM12891	blood:	n/a
8	chr21:15221404-15221454	HIPEpiC	eye:	n/a
9	chr21:15221404-15221454	ECC-1	luminal epithelium:	n/a
10	chr21:15221404-15221454	A549	lung:	n/a
11	chr21:15221404-15221454	RPTEC	kidney:	n/a
12	chr21:15221404-15221454	H1-hESC	embryonic stem cell:	embryo
13	chr21:15221404-15221454	SK-N-SH	brain:	n/a
14	chr21:15221404-15221454	T-47D	breast:	n/a
15	chr21:15221404-15221454	HCPEpiC	choroid plexus:	n/a
16	chr21:15221404-15221454	GM19239	blood:	n/a
17	chr21:15221404-15221454	PFSK-1	brain:	n/a
18	chr21:15221404-15221454	SK-N-SH_RA	brain:	n/a
19	chr21:15221404-15221454	BE2_C	brain:	n/a
20	chr21:15221404-15221454	HEEpiC	esophagus:	n/a
21	chr21:15221404-15221454	AG04450	lung:	fetal
22	chr21:15221404-15221454	HCT-116	colon:	n/a
23	chr21:15221404-15221454	BJ	skin:	n/a
24	chr21:15221404-15221454	CMK	blood:	n/a
25	chr21:15221404-15221454	SK-N-MC	brain:	n/a
26	chr21:15221404-15221454	PANC-1	pancreas:	n/a
27	chr21:15221404-15221454	GM06990	blood:	n/a
28	chr21:15221404-15221454	NB4	blood:	n/a
29	chr21:15221404-15221454	AG04449	skin:	fetal
30	chr21:15221404-15221454	HL-60	blood:	n/a
31	chr21:15221404-15221454	NHDF-neo	bronchial:	n/a
32	chr21:15221404-15221454	K562	blood:	n/a
33	chr21:15221404-15221454	PrEC	prostate:	n/a
34	chr21:15221404-15221454	Caco-2	colon:	n/a
35	chr21:15221404-15221454	SAEC	small airway:	n/a
36	chr21:15221404-15221454	HPAEpiC	pulmonary alveolar:	n/a
37	chr21:15221404-15221454	NT2-D1	testis:	n/a
38	chr21:15221404-15221454	HEK293	kidney:	embryo
39	chr21:15221404-15221454	HMEC	breast:	n/a
40	chr21:15221404-15221454	MCF10A-Er-Src	breast:	n/a
41	chr21:15221404-15221454	HUVEC	blood vessel:	n/a
42	chr21:15221404-15221454	Hepatocyte	liver:	n/a
43	chr21:15221404-15221454	HepG2	liver:	n/a
44	chr21:15221404-15221454	HCF	heart:	n/a
45	chr21:15221404-15221454	SKMC	muscle:	n/a
46	chr21:15221404-15221454	ovcar-3	ovarian:	n/a
47	chr21:15221404-15221454	HRPEpiC	eye:	n/a
48	chr21:15221404-15221454	MCF-7	breast:	n/a
49	chr21:15221404-15221454	LNCaP	prostate:	n/a
50	chr21:15221404-15221454	Jurkat	blood:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-11	chr21:15268407-15268509	NONHSAT081129
2	lnc-POTED-9	chr21:15240747-15241288	NONHSAT081122
3	lnc-POTED-11	chr21:15265662-15265761	NONHSAT081129
4	lnc-POTED-11	chr21:15286426-15287046	NONHSAT081129

No data

Variant related genes	Relation type
SNX18P13	TF binding region
CYP4F29P	TF binding region
SNX18P13	CpG island
CYP4F29P	CpG island

Extended variants
information (count: 3384 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3384 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536699348	chr21:15221404-15221405	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs373493164	chr21:15221453-15221454	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs564875133	chr21:15222073-15222074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557902529	chr21:15222076-15222077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572065628	chr21:15222082-15222083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185176337	chr21:15222089-15222090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375634735	chr21:15222127-15222128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368639367	chr21:15222129-15222130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9976556	chr21:15222139-15222140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs367874360	chr21:15222167-15222168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201962540	chr21:15222200-15222201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200088315	chr21:15222207-15222208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542983692	chr21:15222214-15222215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562774074	chr21:15222219-15222220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575573410	chr21:15222228-15222229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375630014	chr21:15222233-15222234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs75620415	chr21:15222253-15222254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564235565	chr21:15222268-15222269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371746064	chr21:15222292-15222293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375769193	chr21:15222297-15222298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533154249	chr21:15222305-15222306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540104858	chr21:15222339-15222340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs199851351	chr21:15222346-15222347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs560172049	chr21:15222347-15222348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139632198	chr21:15222367-15222368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113003469	chr21:15222391-15222392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62209074	chr21:15222393-15222394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529015238	chr21:15222395-15222396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139140652	chr21:15222397-15222398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182323702	chr21:15222410-15222411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548930268	chr21:15222411-15222412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568535039	chr21:15222424-15222425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531838454	chr21:15222425-15222426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs76106501	chr21:15222426-15222427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs111621962	chr21:15222443-15222444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551667304	chr21:15222447-15222448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs149838089	chr21:15222468-15222469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534400163	chr21:15222494-15222495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554097726	chr21:15222523-15222524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs567729760	chr21:15222535-15222536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568460032	chr21:15223410-15223411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371303454	chr21:15223421-15223422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs529889275	chr21:15223422-15223423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374816145	chr21:15223429-15223430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549671490	chr21:15223436-15223437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182502796	chr21:15223438-15223439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547789225	chr21:15223439-15223440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs567505813	chr21:15223463-15223464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs36060519	chr21:15223478-15223479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565607421	chr21:15223488-15223489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15223800-15224000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr21:15235200-15235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:15244800-15245200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr21:15245200-15246200	Weak transcription	Dnd41	blood
5	chr21:15246200-15247600	Enhancers	Dnd41	blood
6	chr21:15247600-15256200	Weak transcription	Dnd41	blood
7	chr21:15249400-15250200	Enhancers	K562	blood
8	chr21:15250200-15250600	Weak transcription	K562	blood
9	chr21:15250600-15250800	Enhancers	K562	blood
10	chr21:15250800-15252400	Weak transcription	K562	blood
11	chr21:15252400-15253000	Enhancers	K562	blood
12	chr21:15254400-15254800	Active TSS	Fetal Heart	heart
13	chr21:15254800-15258800	Weak transcription	Fetal Heart	heart
14	chr21:15256200-15256600	Enhancers	Dnd41	blood
15	chr21:15256600-15265600	Weak transcription	Dnd41	blood
16	chr21:15258800-15259200	ZNF genes & repeats	Fetal Heart	heart
17	chr21:15265600-15267000	Enhancers	Dnd41	blood
18	chr21:15269000-15269400	Enhancers	K562	blood
19	chr21:15269200-15269400	Enhancers	Lung	lung
20	chr21:15269200-15269400	Enhancers	A549	lung
21	chr21:15270000-15270400	Active TSS	Fetal Heart	heart
22	chr21:15275200-15276000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:15276000-15278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:15277000-15281400	Weak transcription	Esophagus	oesophagus
25	chr21:15277000-15292200	Weak transcription	Dnd41	blood

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