Variant report

Variant	nsv1060399
Chromosome Location	chr21:15099272-15222860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr21:15134301-15134500	GM12878	blood:	n/a	n/a
2	BATF	chr21:15112499-15112702	GM12878	blood:	n/a	n/a
3	BHLHE40	chr21:15145416-15145487	K562	blood:	n/a	chr21:15145432-15145441
4	CEBPB	chr21:15186319-15186519	IMR90	lung:	n/a	chr21:15186346-15186357
5	CEBPB	chr21:15130594-15130794	HepG2	liver:	n/a	chr21:15130731-15130742
6	CEBPB	chr21:15186322-15186471	HepG2	liver:	n/a	chr21:15186346-15186357
7	CEBPB	chr21:15168793-15168892	A549	lung:	n/a	n/a
8	CEBPB	chr21:15158571-15158864	IMR90	lung:	n/a	n/a
9	CTCF	chr21:15166420-15166570	WERI-Rb-1	eye:	n/a	chr21:15166503-15166521
10	CTCF	chr21:15166480-15166630	GM12875	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
11	CTCF	chr21:15178840-15178990	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr21:15112580-15112730	GM12868	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
13	CTCF	chr21:15112473-15112815	K562	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
14	CTCF	chr21:15107419-15107457	GM10248	blood:	n/a	n/a
15	CTCF	chr21:15197919-15197947	MCF-7	breast:	n/a	n/a
16	CTCF	chr21:15171863-15171943	LNCaP	prostate:	n/a	n/a
17	CTCF	chr21:15166434-15166560	HepG2	liver:	n/a	chr21:15166503-15166521
18	CTCF	chr21:15166344-15166733	K562	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
19	CTCF	chr21:15178916-15178981	GM10248	blood:	n/a	n/a
20	CTCF	chr21:15138449-15138527	GM10266	blood:	n/a	n/a
21	CTCF	chr21:15140885-15140922	LNCaP	prostate:	n/a	n/a
22	CTCF	chr21:15164373-15164391	GM13976	blood:	n/a	n/a
23	CTCF	chr21:15132779-15132939	Lung_OC	lung:	n/a	n/a
24	CTCF	chr21:15178800-15179030	A549	lung:	n/a	n/a
25	CTCF	chr21:15178824-15179083	A549	lung:	n/a	n/a
26	CTCF	chr21:15177642-15177675	MCF-7	breast:	n/a	n/a
27	CTCF	chr21:15197894-15197968	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr21:15112590-15112680	SK-N-SH_RA	brain:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
29	CTCF	chr21:15112476-15112766	GM10248	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
30	CTCF	chr21:15197901-15198021	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:15112560-15112684	HUVEC	blood vessel:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
32	CTCF	chr21:15132667-15133016	A549	lung:	n/a	n/a
33	CTCF	chr21:15166400-15166550	WERI-Rb-1	eye:	n/a	chr21:15166503-15166521
34	CTCF	chr21:15178840-15178990	GM12873	blood:	n/a	n/a
35	CTCF	chr21:15112506-15112753	MCF-7	breast:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
36	CTCF	chr21:15112525-15112716	Hela-S3	cervix:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
37	CTCF	chr21:15166440-15166590	NB4	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
38	CTCF	chr21:15137708-15137788	K562	blood:	n/a	n/a
39	CTCF	chr21:15166420-15166570	A549	lung:	n/a	chr21:15166503-15166521
40	CTCF	chr21:15112520-15112723	GM19239	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
41	CTCF	chr21:15178805-15178993	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr21:15178906-15179009	GM19239	blood:	n/a	n/a
43	CTCF	chr21:15205691-15205770	LNCaP	prostate:	n/a	n/a
44	CTCF	chr21:15112525-15112731	GM13976	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
45	CTCF	chr21:15112563-15112709	T-47D	breast:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
46	CTCF	chr21:15166420-15166570	HEK293	kidney:	n/a	chr21:15166503-15166521
47	CTCF	chr21:15112459-15112742	K562	blood:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
48	CTCF	chr21:15133946-15133994	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr21:15112558-15112747	MCF-7	breast:	n/a	chr21:15112618-15112634 chr21:15112620-15112633 chr21:15112617-15112635
50	CTCF	chr21:15166460-15166610	MCF-7	breast:	n/a	chr21:15166558-15166571 chr21:15166503-15166521

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15112617-15112667	GM19239	blood:	n/a
2	chr21:15215654-15215704	ProgFib	skin:	n/a
3	chr21:15112617-15112667	GM19239	blood:	n/a
4	chr21:15215654-15215704	ProgFib	skin:	n/a
5	chr21:15135580-15135630	HEEpiC	esophagus:	n/a
6	chr21:15221404-15221454	NT2-D1	testis:	n/a
7	chr21:15144580-15144630	BJ	skin:	n/a
8	chr21:15215654-15215704	SK-N-SH	brain:	n/a
9	chr21:15221404-15221454	HRE	kidney:	n/a
10	chr21:15149415-15149465	A549	lung:	n/a
11	chr21:15135580-15135630	PFSK-1	brain:	n/a
12	chr21:15134491-15134541	GM12891	blood:	n/a
13	chr21:15194427-15194477	AG10803	skin:	n/a
14	chr21:15200106-15200156	AG10803	skin:	n/a
15	chr21:15112617-15112667	HCF	heart:	n/a
16	chr21:15135336-15135386	AG09309	skin:	n/a
17	chr21:15135336-15135386	SKMC	muscle:	n/a
18	chr21:15220709-15220759	AG04450	lung:	fetal
19	chr21:15135336-15135386	GM12878	blood:	n/a
20	chr21:15147467-15147517	BE2_C	brain:	n/a
21	chr21:15220709-15220759	A549	lung:	n/a
22	chr21:15112617-15112667	HCPEpiC	choroid plexus:	n/a
23	chr21:15138802-15138852	LNCaP	prostate:	n/a
24	chr21:15144580-15144630	HNPCEpiC	eye:	n/a
25	chr21:15144580-15144630	Hela-S3	cervix:	n/a
26	chr21:15220709-15220759	HCPEpiC	choroid plexus:	n/a
27	chr21:15144580-15144630	SK-N-SH_RA	brain:	n/a
28	chr21:15112617-15112667	NH-A	brain:	n/a
29	chr21:15135043-15135093	T-47D	breast:	n/a
30	chr21:15134491-15134541	HEK293	kidney:	embryo
31	chr21:15199826-15199876	NHDF-neo	bronchial:	n/a
32	chr21:15131938-15131988	U87	brain:	n/a
33	chr21:15194427-15194477	NHBE	bronchial:	n/a
34	chr21:15135043-15135093	NHDF-neo	bronchial:	n/a
35	chr21:15135145-15135195	HMEC	breast:	n/a
36	chr21:15135043-15135093	SK-N-SH_RA	brain:	n/a
37	chr21:15200106-15200156	SKMC	muscle:	n/a
38	chr21:15135145-15135195	Jurkat	blood:	n/a
39	chr21:15134491-15134541	HepG2	liver:	n/a
40	chr21:15200106-15200156	HCF	heart:	n/a
41	chr21:15221404-15221454	HCPEpiC	choroid plexus:	n/a
42	chr21:15144580-15144630	ECC-1	luminal epithelium:	n/a
43	chr21:15199826-15199876	NT2-D1	testis:	n/a
44	chr21:15138802-15138852	BE2_C	brain:	n/a
45	chr21:15149415-15149465	HCM	heart:	n/a
46	chr21:15134491-15134541	LNCaP	prostate:	n/a
47	chr21:15215654-15215704	BE2_C	brain:	n/a
48	chr21:15144580-15144630	SK-N-MC	brain:	n/a
49	chr21:15148636-15148686	HCPEpiC	choroid plexus:	n/a
50	chr21:15134491-15134541	MCF-7	breast:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-7	chr21:15215454-15215753	NONHSAT081124
2	lnc-LIPI-7	chr21:15220411-15220685	NONHSAT081124
3	lnc-LIPI-7	chr21:15216343-15216456	NONHSAT081124
4	lnc-POTED-9	chr21:15212726-15212964	NONHSAT081122
5	lnc-POTED-2	chr21:15142253-15142534	XLOC_013860
6	lnc-LIPI-7	chr21:15217326-15217595	NONHSAT081124
7	lnc-LIPI-7	chr21:15217426-15217595	NONHSAT081125
8	lnc-POTED-2	chr21:15143886-15144061	XLOC_013860
9	lnc-LIPI-7	chr21:15218334-15218462	NONHSAT081124
10	lnc-LIPI-7	chr21:15216343-15216385	NONHSAT147184
11	lnc-LIPI-7	chr21:15219080-15219270	NONHSAT081124
12	lnc-POTED-8	chr21:15211439-15211730	NONHSAT081121
13	lnc-LIPI-7	chr21:15218334-15218713	NONHSAT081125
14	lnc-LIPI-7	chr21:15215457-15215753	NONHSAT147184
15	lnc-LIPI-9	chr21:15116918-15118607	l_2168_chr21:15116917-15119815_placenta
16	lnc-LIPI-9	chr21:15119715-15119817	l_2168_chr21:15116917-15119815_placenta

Variant related genes	Relation type
FAM207CP	TF binding region
FEM1AP1	TF binding region
TERF1P1	TF binding region
ZNF114P1	TF binding region
ENSG00000224922	TF binding region
GXYLT1P2	TF binding region
CNN2P7	TF binding region
CYP4F29P	TF binding region
FAM207CP	CpG island
FEM1AP1	CpG island
TERF1P1	CpG island
ZNF114P1	CpG island
ENSG00000224922	CpG island
GXYLT1P2	CpG island
CNN2P7	CpG island
CYP4F29P	CpG island

Extended variants
information (count: 658 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557905034	chr21:15112025-15112026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201744304	chr21:15112113-15112114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9978792	chr21:15112246-15112247	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370248320	chr21:15112381-15112382	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200157551	chr21:15112589-15112590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375400661	chr21:15112671-15112672	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs62214059	chr21:15112828-15112829	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372362570	chr21:15112927-15112928	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7283616	chr21:15116946-15116947	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368076026	chr21:15116953-15116954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs200592755	chr21:15117026-15117027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs201340692	chr21:15117032-15117033	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs112705231	chr21:15117123-15117124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372268542	chr21:15117187-15117188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs374112249	chr21:15117190-15117191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs149602458	chr21:15117233-15117234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs536341232	chr21:15117285-15117286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs111945897	chr21:15117486-15117487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs62215161	chr21:15117601-15117602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112562456	chr21:15117944-15117945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs61599323	chr21:15117946-15117947	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374909278	chr21:15118216-15118217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs61670535	chr21:15118264-15118265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs372637413	chr21:15118390-15118391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377262574	chr21:15118428-15118429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200389683	chr21:15118431-15118432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs374469179	chr21:15119739-15119740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs199680306	chr21:15130108-15130109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs368983383	chr21:15130756-15130757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs368881290	chr21:15130779-15130780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs62215166	chr21:15132793-15132794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373881568	chr21:15132794-15132795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370455268	chr21:15133017-15133018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs114401614	chr21:15134369-15134370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369455872	chr21:15134379-15134380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs374158911	chr21:15134386-15134387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs8130717	chr21:15134577-15134578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370156690	chr21:15134602-15134603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371785422	chr21:15134614-15134615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376850196	chr21:15134650-15134651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs146554625	chr21:15137578-15137579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532601820	chr21:15138477-15138478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs145562005	chr21:15138490-15138491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200709159	chr21:15144585-15144586	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs201713340	chr21:15145427-15145428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374978950	chr21:15145484-15145485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371531204	chr21:15145505-15145506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113925516	chr21:15146879-15146880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371959170	chr21:15146964-15146965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs3875046	chr21:15147043-15147044	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15112000-15112200	Enhancers	Dnd41	blood
2	chr21:15112200-15112400	Flanking Active TSS	Dnd41	blood
3	chr21:15112400-15112600	Enhancers	Dnd41	blood
4	chr21:15112600-15112800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:15112600-15113000	Flanking Active TSS	Dnd41	blood
6	chr21:15112800-15113000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:15113000-15113200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:15113000-15113200	Enhancers	Dnd41	blood
9	chr21:15147000-15148800	Enhancers	Dnd41	blood
10	chr21:15164800-15165400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:15165400-15165800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:15165400-15167200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:15165600-15167400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:15165800-15167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:15166200-15167200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:15167400-15169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:15169200-15170800	Enhancers	Dnd41	blood
18	chr21:15169600-15171000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:15170000-15170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:15179200-15179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:15182400-15182800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:15186800-15187800	Enhancers	Dnd41	blood
23	chr21:15191600-15193200	Enhancers	Placenta	Placenta
24	chr21:15196200-15197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:15197400-15197600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:15197600-15198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:15198000-15198200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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