Variant report

Variant	nsv9853
Chromosome Location	chr21:15342342-15349727
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	ARID3A	chr21:15346022-15346251	K562	blood:	n/a	n/a
2	ARID3A	chr21:15346922-15347270	K562	blood:	n/a	n/a
3	ATF1	chr21:15342677-15342811	K562	blood:	n/a	n/a
4	BACH1	chr21:15347039-15347218	K562	blood:	n/a	n/a
5	BHLHE40	chr21:15347507-15347656	K562	blood:	n/a	n/a
6	CEBPB	chr21:15346232-15346412	K562	blood:	n/a	n/a
7	CEBPB	chr21:15347031-15347099	K562	blood:	n/a	n/a
8	CEBPD	chr21:15346361-15346742	K562	blood:	n/a	n/a
9	CTCF	chr21:15347521-15347536	K562	blood:	n/a	n/a
10	CUX1	chr21:15347059-15347236	K562	blood:	n/a	n/a
11	CUX1	chr21:15345847-15346152	K562	blood:	n/a	n/a
12	EP300	chr21:15343658-15343948	GM12878	blood:	n/a	n/a
13	EP300	chr21:15347518-15347687	K562	blood:	n/a	n/a
14	EP300	chr21:15347044-15347244	K562	blood:	n/a	n/a
15	EP300	chr21:15345798-15346486	K562	blood:	n/a	n/a
16	EP300	chr21:15346910-15347275	K562	blood:	n/a	chr21:15346958-15346972
17	FOS	chr21:15342273-15342644	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr21:15342189-15342590	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr21:15342307-15342560	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr21:15342162-15342590	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr21:15342267-15342442	T-47D	breast:	n/a	n/a
22	FOXA1	chr21:15342243-15342442	T-47D	breast:	n/a	n/a
23	FOXA2	chr21:15342198-15342551	A549	lung:	n/a	n/a
24	FOXA2	chr21:15342193-15342634	A549	lung:	n/a	n/a
25	GATA1	chr21:15342574-15342957	K562	blood:	n/a	chr21:15342814-15342821 chr21:15342814-15342821 chr21:15342812-15342822 chr21:15342811-15342823 chr21:15342814-15342821
26	GATA2	chr21:15347387-15347724	K562	blood:	n/a	n/a
27	GATA2	chr21:15346916-15347369	K562	blood:	n/a	chr21:15347170-15347180 chr21:15347197-15347207 chr21:15347240-15347249
28	GATA2	chr21:15346320-15346885	K562	blood:	n/a	chr21:15346659-15346669 chr21:15346715-15346722 chr21:15346558-15346566 chr21:15346660-15346669 chr21:15346715-15346722 chr21:15346660-15346667 chr21:15346715-15346722
29	HEY1	chr21:15347452-15347641	K562	blood:	n/a	n/a
30	IRF1	chr21:15346896-15347628	K562	blood:	n/a	chr21:15347039-15347059
31	IRF1	chr21:15345815-15346434	K562	blood:	n/a	chr21:15345992-15346006 chr21:15345996-15346010 chr21:15345998-15346007 chr21:15345990-15346007 chr21:15345996-15346006
32	IRF1	chr21:15345805-15346158	K562	blood:	n/a	chr21:15345992-15346006 chr21:15345996-15346010 chr21:15345998-15346007 chr21:15345990-15346007 chr21:15345996-15346006
33	IRF1	chr21:15346431-15346451	K562	blood:	n/a	n/a
34	IRF1	chr21:15347030-15347251	K562	blood:	n/a	chr21:15347039-15347059
35	JUN	chr21:15347051-15347251	K562	blood:	n/a	n/a
36	JUN	chr21:15345896-15346304	K562	blood:	n/a	n/a
37	JUND	chr21:15346904-15347256	K562	blood:	n/a	n/a
38	JUND	chr21:15342350-15342485	HepG2	liver:	n/a	n/a
39	JUND	chr21:15347521-15347548	K562	blood:	n/a	n/a
40	JUND	chr21:15345893-15346210	K562	blood:	n/a	n/a
41	JUND	chr21:15342153-15342508	A549	lung:	n/a	n/a
42	MAFF	chr21:15346885-15347268	K562	blood:	n/a	n/a
43	MAFK	chr21:15345893-15346097	K562	blood:	n/a	n/a
44	MAFK	chr21:15346903-15347260	K562	blood:	n/a	chr21:15347087-15347096
45	MAZ	chr21:15345967-15346136	K562	blood:	n/a	n/a
46	MAZ	chr21:15347075-15347217	K562	blood:	n/a	n/a
47	MYC	chr21:15342353-15342568	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr21:15342313-15342563	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr21:15346235-15346562	K562	blood:	n/a	chr21:15346500-15346509
50	MYC	chr21:15346856-15347086	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LIPI-4	chr21:15342294-15342431	NONHSAT081133
2	lnc-LIPI-4	chr21:15344317-15344450	NONHSAT081133

Variant related genes	Relation type
RNU6-954P	TF binding region
ANKRD20A11P	TF binding region

Extended variants
information (count: 570 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565611673	chr21:15342344-15342345	Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs384047	chr21:15342395-15342396	Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184237485	chr21:15342425-15342426	Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs568109234	chr21:15342448-15342449	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs537717638	chr21:15342455-15342456	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs557402757	chr21:15342471-15342472	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs577480497	chr21:15342491-15342492	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs556101427	chr21:15342516-15342517	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs546050076	chr21:15342518-15342519	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs553531733	chr21:15342520-15342521	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs573213239	chr21:15342551-15342552	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs187531101	chr21:15342561-15342562	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs384202	chr21:15342572-15342573	Enhancers Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530843351	chr21:15342592-15342593	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs191565262	chr21:15342609-15342610	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs143281241	chr21:15342637-15342638	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs563403601	chr21:15342649-15342650	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs532460311	chr21:15342655-15342656	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs552040383	chr21:15342695-15342696	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs572158157	chr21:15342757-15342758	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs565877660	chr21:15342776-15342777	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs377579067	chr21:15342863-15342864	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs528185086	chr21:15342880-15342881	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs113009968	chr21:15342885-15342886	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs59271677	chr21:15342905-15342906	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61018900	chr21:15342967-15342968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554892639	chr21:15342994-15342995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537008985	chr21:15343034-15343035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4816883	chr21:15343068-15343069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4816884	chr21:15343069-15343070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554027669	chr21:15343091-15343092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556936520	chr21:15343100-15343101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571009100	chr21:15343107-15343108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4816885	chr21:15343112-15343113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561826207	chr21:15343117-15343118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574127767	chr21:15343155-15343156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374768405	chr21:15343161-15343162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76199574	chr21:15343182-15343183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4816886	chr21:15343187-15343188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149164878	chr21:15343195-15343196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553279190	chr21:15343197-15343198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370965149	chr21:15343204-15343205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367831145	chr21:15343213-15343214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371467949	chr21:15343226-15343227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374616499	chr21:15343235-15343236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190048015	chr21:15343239-15343240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374600274	chr21:15343252-15343253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535535123	chr21:15343259-15343260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555477405	chr21:15343306-15343307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75866591	chr21:15343320-15343321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Breast cancer	22522925	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15310400-15347400	Weak transcription	Dnd41	blood
2	chr21:15341400-15342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:15341400-15342800	Enhancers	Hela-S3	cervix
4	chr21:15341400-15342800	Enhancers	K562	blood
5	chr21:15342000-15342600	Weak transcription	HMEC	breast
6	chr21:15342600-15342800	Enhancers	HMEC	breast
7	chr21:15342800-15345800	Weak transcription	K562	blood
8	chr21:15345800-15346400	Flanking Active TSS	K562	blood
9	chr21:15346000-15346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:15346400-15346800	Enhancers	K562	blood
11	chr21:15346800-15347000	Flanking Active TSS	K562	blood
12	chr21:15347000-15347200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:15347000-15347600	Active TSS	K562	blood
14	chr21:15347400-15347600	Enhancers	Esophagus	oesophagus
15	chr21:15347400-15347800	Enhancers	Dnd41	blood
16	chr21:15347600-15347800	Flanking Active TSS	K562	blood
17	chr21:15347600-15351800	Weak transcription	Esophagus	oesophagus
18	chr21:15347800-15348600	Weak transcription	K562	blood
19	chr21:15347800-15350000	Weak transcription	Dnd41	blood
20	chr21:15348600-15349000	Enhancers	K562	blood
21	chr21:15349000-15349800	Weak transcription	K562	blood

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