Variant report

Variant	nsv587043
Chromosome Location	chr21:15501522-15550435
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	chr21:15510869-15511102	HepG2	liver:	n/a	chr21:15510993-15511004
2	CEBPB	chr21:15538448-15538699	A549	lung:	n/a	chr21:15538576-15538587
3	CEBPB	chr21:15538438-15538741	HepG2	liver:	n/a	chr21:15538576-15538587
4	CTCF	chr21:15512059-15512068	GM20000	blood:	n/a	n/a
5	CTCF	chr21:15539146-15539220	MCF-7	breast:	n/a	n/a
6	CTCF	chr21:15512070-15512090	GM20000	blood:	n/a	n/a
7	CUX1	chr21:15534329-15534463	K562	blood:	n/a	n/a
8	E2F4	chr21:15532156-15532422	MCF10A-Er-Src	breast:	n/a	n/a
9	ELF1	chr21:15502483-15502657	K562	blood:	n/a	chr21:15502586-15502599
10	EP300	chr21:15516495-15516570	K562	blood:	n/a	n/a
11	EP300	chr21:15507644-15507761	GM12878	blood:	n/a	n/a
12	EP300	chr21:15514101-15514179	K562	blood:	n/a	n/a
13	FAM48A	chr21:15525407-15525579	GM12878	blood:	n/a	n/a
14	FAM48A	chr21:15550031-15550329	GM12878	blood:	n/a	n/a
15	FOS	chr21:15538406-15538720	MCF10A-Er-Src	breast:	n/a	chr21:15538560-15538568 chr21:15538561-15538568 chr21:15538560-15538568
16	FOS	chr21:15539160-15539206	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr21:15538405-15538719	MCF10A-Er-Src	breast:	n/a	chr21:15538560-15538568 chr21:15538561-15538568 chr21:15538560-15538568
18	FOS	chr21:15538405-15538741	MCF10A-Er-Src	breast:	n/a	chr21:15538560-15538568 chr21:15538561-15538568 chr21:15538560-15538568
19	FOS	chr21:15538399-15538744	MCF10A-Er-Src	breast:	n/a	chr21:15538560-15538568 chr21:15538561-15538568 chr21:15538560-15538568
20	FOS	chr21:15539083-15539197	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA2	chr21:15539172-15539764	A549	lung:	n/a	n/a
22	FOXA2	chr21:15539338-15539715	A549	lung:	n/a	n/a
23	GATA3	chr21:15504367-15504672	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr21:15533076-15533276	SH-SY5Y	brain:	n/a	n/a
25	GTF2F1	chr21:15503050-15503124	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr21:15507709-15507978	K562	blood:	n/a	n/a
27	HEY1	chr21:15507623-15508240	K562	blood:	n/a	n/a
28	IRF1	chr21:15545445-15545732	K562	blood:	n/a	n/a
29	JUND	chr21:15518491-15518680	HepG2	liver:	n/a	chr21:15518574-15518585
30	JUND	chr21:15538461-15538717	HepG2	liver:	n/a	chr21:15538560-15538568 chr21:15538561-15538568 chr21:15538560-15538568 chr21:15538558-15538569
31	KAP1	chr21:15504094-15504803	K562	blood:	n/a	n/a
32	KAP1	chr21:15538655-15539356	U2OS	brain:	n/a	n/a
33	KAP1	chr21:15539009-15539433	HEK293	kidney:	n/a	n/a
34	MAFF	chr21:15538814-15539147	HepG2	liver:	n/a	n/a
35	MAFF	chr21:15538811-15539140	K562	blood:	n/a	n/a
36	MAFK	chr21:15532202-15532383	HepG2	liver:	n/a	n/a
37	MAFK	chr21:15511713-15511714	HepG2	liver:	n/a	n/a
38	MAFK	chr21:15538835-15539152	HepG2	liver:	n/a	chr21:15538973-15538984 chr21:15538972-15538986 chr21:15538969-15538984 chr21:15538974-15538985 chr21:15538973-15538984
39	MAFK	chr21:15538831-15539136	K562	blood:	n/a	chr21:15538973-15538984 chr21:15538972-15538986 chr21:15538969-15538984 chr21:15538974-15538985 chr21:15538973-15538984
40	MAFK	chr21:15538807-15539159	HepG2	liver:	n/a	chr21:15538973-15538984 chr21:15538972-15538986 chr21:15538969-15538984 chr21:15538974-15538985 chr21:15538973-15538984
41	MAFK	chr21:15538812-15539136	IMR90	lung:	n/a	chr21:15538973-15538984 chr21:15538972-15538986 chr21:15538969-15538984 chr21:15538974-15538985 chr21:15538973-15538984
42	MXI1	chr21:15513804-15513821	K562	blood:	n/a	n/a
43	MYC	chr21:15539018-15539497	MCF-7	breast:	n/a	n/a
44	MYC	chr21:15539160-15539229	MCF-7	breast:	n/a	n/a
45	MYC	chr21:15538415-15538720	MCF10A-Er-Src	breast:	n/a	chr21:15538576-15538585 chr21:15538559-15538568
46	MYC	chr21:15539457-15539494	MCF-7	breast:	n/a	n/a
47	MYC	chr21:15529035-15529061	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr21:15539407-15539440	MCF-7	breast:	n/a	n/a
49	MYC	chr21:15539113-15539248	MCF-7	breast:	n/a	n/a
50	MYC	chr21:15539039-15539360	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:15493769..15495607-chr21:15500118..15502421,2	K562	blood:
2	chr21:15498829..15500815-chr21:15502377..15504055,2	K562	blood:
3	chr21:15531265..15533440-chr21:15535110..15537488,2	MCF-7	breast:
4	chr21:15510246..15512237-chr21:15537714..15540194,2	MCF-7	breast:
5	chr21:15518340..15522108-chr21:15524344..15527724,3	K562	blood:
6	chr21:15525627..15528349-chr21:15528891..15531614,2	K562	blood:
7	chr21:15518340..15522108-chr21:15524344..15527724,3	K562	blood:
8	chr21:15531265..15533440-chr21:15535110..15537488,2	MCF-7	breast:
9	chr21:15494107..15496665-chr21:15500921..15502468,2	K562	blood:
10	chr21:15510246..15512237-chr21:15537714..15540194,2	MCF-7	breast:
11	chr21:15525627..15528349-chr21:15528891..15531614,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM11-2	chr21:15515902-15516479	NONHSAT081148

Variant related genes	Relation type
ERLEC1P1	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570825272	chr21:15510941-15510942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7283436	chr21:15510998-15510999	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553048226	chr21:15511000-15511001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183084114	chr21:15511029-15511030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs9980668	chr21:15511035-15511036	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570147413	chr21:15511044-15511045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575395633	chr21:15511076-15511077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554437477	chr21:15511092-15511093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73162696	chr21:15512083-15512084	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2822429	chr21:15514013-15514014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540292903	chr21:15514035-15514036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189812043	chr21:15514069-15514070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564226971	chr21:15514076-15514077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181128889	chr21:15514146-15514147	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541642870	chr21:15514201-15514202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532294274	chr21:15514216-15514217	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs71330037	chr21:15514225-15514226	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs59557436	chr21:15514279-15514280	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76205681	chr21:15514340-15514341	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548836826	chr21:15514363-15514364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568897477	chr21:15514367-15514368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150584930	chr21:15514375-15514376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560470364	chr21:15515398-15515399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371661156	chr21:15515412-15515413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377176051	chr21:15515432-15515433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559105233	chr21:15515917-15515918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs566148477	chr21:15515926-15515927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138460955	chr21:15515966-15515967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs535017120	chr21:15515975-15515976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs2212711	chr21:15516012-15516013	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193142703	chr21:15516020-15516021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs185726984	chr21:15516080-15516081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs372819966	chr21:15516130-15516131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs375042363	chr21:15516149-15516150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs141607738	chr21:15516157-15516158	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs188987180	chr21:15516173-15516174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs544777107	chr21:15516174-15516175	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs564641387	chr21:15516179-15516180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs180998192	chr21:15516229-15516230	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs540719739	chr21:15516230-15516231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs560597769	chr21:15516261-15516262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs145260608	chr21:15516265-15516266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs576449367	chr21:15516321-15516322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs2822430	chr21:15516330-15516331	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11909656	chr21:15516357-15516358	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183864691	chr21:15516375-15516376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs118123672	chr21:15516381-15516382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs542053728	chr21:15516390-15516391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs137901261	chr21:15516396-15516397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs535163054	chr21:15516405-15516406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15514000-15514400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr21:15529400-15530200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:15531600-15532000	Active TSS	Fetal Heart	heart
4	chr21:15539000-15539400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr21:15545400-15545600	Active TSS	Hela-S3	cervix
6	chr21:15545400-15545800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr21:15545600-15545800	Flanking Active TSS	Hela-S3	cervix

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