Variant report

Variant	nsv459094
Chromosome Location	chr21:15148633-15215814
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	CEBPB	chr21:15168793-15168892	A549	lung:	n/a	n/a
2	CEBPB	chr21:15158571-15158864	IMR90	lung:	n/a	n/a
3	CEBPB	chr21:15186319-15186519	IMR90	lung:	n/a	chr21:15186346-15186357
4	CEBPB	chr21:15186322-15186471	HepG2	liver:	n/a	chr21:15186346-15186357
5	CTCF	chr21:15178908-15179050	IMR90	lung:	n/a	n/a
6	CTCF	chr21:15166400-15166550	K562	blood:	n/a	chr21:15166503-15166521
7	CTCF	chr21:15166496-15166525	Hela-S3	cervix:	n/a	chr21:15166503-15166521
8	CTCF	chr21:15166447-15166562	LNCaP	prostate:	n/a	chr21:15166503-15166521
9	CTCF	chr21:15178780-15178930	MCF-7	breast:	n/a	n/a
10	CTCF	chr21:15166420-15166570	K562	blood:	n/a	chr21:15166503-15166521
11	CTCF	chr21:15178860-15179010	GM12873	blood:	n/a	n/a
12	CTCF	chr21:15178879-15179029	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr21:15178824-15179083	A549	lung:	n/a	n/a
14	CTCF	chr21:15166400-15166550	Hela-S3	cervix:	n/a	chr21:15166503-15166521
15	CTCF	chr21:15178834-15179071	MCF-7	breast:	n/a	n/a
16	CTCF	chr21:15166405-15166632	MCF-7	breast:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
17	CTCF	chr21:15178822-15179091	MCF-7	breast:	n/a	n/a
18	CTCF	chr21:15166420-15166570	HEK293	kidney:	n/a	chr21:15166503-15166521
19	CTCF	chr21:15178920-15179049	Gliobla	brain:	n/a	n/a
20	CTCF	chr21:15166464-15166565	HepG2	liver:	n/a	chr21:15166503-15166521
21	CTCF	chr21:15178828-15179079	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:15178771-15179087	K562	blood:	n/a	n/a
23	CTCF	chr21:15166400-15166550	HepG2	liver:	n/a	chr21:15166503-15166521
24	CTCF	chr21:15178880-15179030	GM12864	blood:	n/a	n/a
25	CTCF	chr21:15166393-15166594	SK-N-SH_RA	brain:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
26	CTCF	chr21:15166460-15166610	GM12870	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
27	CTCF	chr21:15166420-15166570	WERI-Rb-1	eye:	n/a	chr21:15166503-15166521
28	CTCF	chr21:15178911-15178969	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr21:15178822-15179085	MCF-7	breast:	n/a	n/a
30	CTCF	chr21:15166440-15166590	GM12871	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
31	CTCF	chr21:15207458-15207567	Lung_OC	lung:	n/a	n/a
32	CTCF	chr21:15166440-15166590	NB4	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
33	CTCF	chr21:15173751-15173822	LNCaP	prostate:	n/a	n/a
34	CTCF	chr21:15178906-15179009	GM19239	blood:	n/a	n/a
35	CTCF	chr21:15166220-15166790	SK-N-SH	brain:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
36	CTCF	chr21:15197864-15197969	MCF-7	breast:	n/a	n/a
37	CTCF	chr21:15197840-15197981	LNCaP	prostate:	n/a	n/a
38	CTCF	chr21:15177642-15177675	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:15166416-15166623	K562	blood:	n/a	chr21:15166558-15166571 chr21:15166503-15166521
40	CTCF	chr21:15197820-15198025	A549	lung:	n/a	n/a
41	CTCF	chr21:15178895-15179025	GM19238	blood:	n/a	n/a
42	CTCF	chr21:15166380-15166530	GM12871	blood:	n/a	chr21:15166503-15166521
43	CTCF	chr21:15178881-15179014	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr21:15166420-15166570	GM12873	blood:	n/a	chr21:15166503-15166521
45	CTCF	chr21:15166420-15166570	GM12870	blood:	n/a	chr21:15166503-15166521
46	CTCF	chr21:15166400-15166550	GM12864	blood:	n/a	chr21:15166503-15166521
47	CTCF	chr21:15197702-15198085	K562	blood:	n/a	n/a
48	CTCF	chr21:15205241-15205348	GM20000	blood:	n/a	n/a
49	CTCF	chr21:15157278-15157322	Medullo	brain:	n/a	n/a
50	CTCF	chr21:15166420-15166570	A549	lung:	n/a	chr21:15166503-15166521

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:15200106-15200156	HRPEpiC	eye:	n/a
2	chr21:15194427-15194477	Caco-2	colon:	n/a
3	chr21:15149415-15149465	Caco-2	colon:	n/a
4	chr21:15194427-15194477	HEEpiC	esophagus:	n/a
5	chr21:15200106-15200156	HCM	heart:	n/a
6	chr21:15200106-15200156	PANC-1	pancreas:	n/a
7	chr21:15197291-15197341	HNPCEpiC	eye:	n/a
8	chr21:15197291-15197341	PrEC	prostate:	n/a
9	chr21:15197291-15197341	HIPEpiC	eye:	n/a
10	chr21:15148636-15148686	GM19239	blood:	n/a
11	chr21:15149415-15149465	H1-hESC	embryonic stem cell:	embryo
12	chr21:15149415-15149465	GM12878	blood:	n/a
13	chr21:15199826-15199876	SK-N-SH_RA	brain:	n/a
14	chr21:15199826-15199876	CMK	blood:	n/a
15	chr21:15148636-15148686	AoSMC	blood vessel:	n/a
16	chr21:15199826-15199876	K562	blood:	n/a
17	chr21:15194427-15194477	RPTEC	kidney:	n/a
18	chr21:15197291-15197341	Caco-2	colon:	n/a
19	chr21:15200106-15200156	ECC-1	luminal epithelium:	n/a
20	chr21:15200106-15200156	SK-N-SH	brain:	n/a
21	chr21:15200106-15200156	AG04450	lung:	fetal
22	chr21:15148636-15148686	MCF-7	breast:	n/a
23	chr21:15199826-15199876	AG10803	skin:	n/a
24	chr21:15148636-15148686	SAEC	small airway:	n/a
25	chr21:15215654-15215704	HRCEpiC	kidney:	n/a
26	chr21:15215654-15215704	MCF-7	breast:	n/a
27	chr21:15215654-15215704	AoSMC	blood vessel:	n/a
28	chr21:15149415-15149465	ovcar-3	ovarian:	n/a
29	chr21:15149415-15149465	MCF-7	breast:	n/a
30	chr21:15148636-15148686	GM12878	blood:	n/a
31	chr21:15149415-15149465	HAEpiC	amniotic membrane:	n/a
32	chr21:15200106-15200156	Caco-2	colon:	n/a
33	chr21:15197291-15197341	HPAEpiC	pulmonary alveolar:	n/a
34	chr21:15199826-15199876	PFSK-1	brain:	n/a
35	chr21:15148636-15148686	HNPCEpiC	eye:	n/a
36	chr21:15197291-15197341	ovcar-3	ovarian:	n/a
37	chr21:15200106-15200156	NHDF-neo	bronchial:	n/a
38	chr21:15200106-15200156	SAEC	small airway:	n/a
39	chr21:15148636-15148686	AG10803	skin:	n/a
40	chr21:15148636-15148686	SK-N-SH_RA	brain:	n/a
41	chr21:15194427-15194477	HepG2	liver:	n/a
42	chr21:15197291-15197341	AG04450	lung:	fetal
43	chr21:15200106-15200156	GM19239	blood:	n/a
44	chr21:15197291-15197341	MCF10A-Er-Src	breast:	n/a
45	chr21:15148636-15148686	NB4	blood:	n/a
46	chr21:15194427-15194477	SKMC	muscle:	n/a
47	chr21:15194427-15194477	HRCEpiC	kidney:	n/a
48	chr21:15199826-15199876	ECC-1	luminal epithelium:	n/a
49	chr21:15200106-15200156	HAEpiC	amniotic membrane:	n/a
50	chr21:15197291-15197341	GM12878	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-8	chr21:15211439-15211730	NONHSAT081121
2	lnc-LIPI-7	chr21:15215454-15215753	NONHSAT081124
3	lnc-POTED-9	chr21:15212726-15212964	NONHSAT081122
4	lnc-LIPI-7	chr21:15215457-15215753	NONHSAT147184

Variant related genes	Relation type
FAM207CP	TF binding region
ZNF114P1	TF binding region
GXYLT1P2	TF binding region
CNN2P7	TF binding region
FAM207CP	CpG island
ZNF114P1	CpG island
GXYLT1P2	CpG island
CNN2P7	CpG island

Extended variants
information (count: 466 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:466 , 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	rs369653167	chr21:15148652-15148653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200533432	chr21:15148657-15148658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377573007	chr21:15148739-15148740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368087364	chr21:15164836-15164837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2822123	chr21:15164934-15164935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544760393	chr21:15164950-15164951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80171915	chr21:15164955-15164956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74905693	chr21:15164989-15164990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75617772	chr21:15165000-15165001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76916757	chr21:15165001-15165002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533205110	chr21:15165002-15165003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188166486	chr21:15165008-15165009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116774903	chr21:15165036-15165037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374288056	chr21:15165073-15165074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547986928	chr21:15165148-15165149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377250252	chr21:15165155-15165156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369457963	chr21:15165164-15165165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2064649	chr21:15165175-15165176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114383654	chr21:15165184-15165185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570407892	chr21:15165205-15165206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376919500	chr21:15165207-15165208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539086205	chr21:15165307-15165308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111971275	chr21:15165328-15165329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60955491	chr21:15165355-15165356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370261562	chr21:15165356-15165357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573465651	chr21:15165419-15165420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9977393	chr21:15165482-15165483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8133373	chr21:15165491-15165492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372976162	chr21:15165558-15165559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9984385	chr21:15165684-15165685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376442027	chr21:15165737-15165738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115944867	chr21:15165769-15165770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536005326	chr21:15165798-15165799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370160308	chr21:15165877-15165878	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555991741	chr21:15165893-15165894	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575947289	chr21:15165895-15165896	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185097773	chr21:15165914-15165915	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374455021	chr21:15165915-15165916	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564451509	chr21:15165925-15165926	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115062391	chr21:15165969-15165970	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113564848	chr21:15165971-15165972	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115485515	chr21:15165974-15165975	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375100450	chr21:15166064-15166065	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75242360	chr21:15166087-15166088	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111363986	chr21:15166178-15166179	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117043967	chr21:15166228-15166229	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149063611	chr21:15166291-15166292	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540284126	chr21:15166344-15166345	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111517280	chr21:15166424-15166425	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372078212	chr21:15166436-15166437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

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

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