Variant report

Variant	esv3364865
Chromosome Location	chr21:40757556-40757943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:183)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40757606-40757783	HepG2	liver:	n/a	n/a
2	ATF3	chr21:40757394-40758068	HepG2	liver:	n/a	n/a
3	ATF3	chr21:40757524-40757968	HepG2	liver:	n/a	n/a
4	BHLHE40	chr21:40757597-40757886	A549	lung:	n/a	n/a
5	BHLHE40	chr21:40757544-40758086	GM12878	blood:	n/a	n/a
6	BHLHE40	chr21:40757234-40758053	HepG2	liver:	n/a	n/a
7	BRCA1	chr21:40757254-40758292	HepG2	liver:	n/a	n/a
8	CEBPB	chr21:40757808-40758131	HepG2	liver:	n/a	n/a
9	CHD2	chr21:40757175-40758426	HepG2	liver:	n/a	chr21:40757235-40757245
10	CHD2	chr21:40757606-40758007	GM12878	blood:	n/a	n/a
11	CREB1	chr21:40757588-40758091	A549	lung:	n/a	n/a
12	CTCF	chr21:40757820-40757970	HEK293	kidney:	n/a	n/a
13	CTCF	chr21:40757440-40757590	HepG2	liver:	n/a	n/a
14	CTCF	chr21:40757420-40757570	HCPEpiC	choroid plexus:	n/a	n/a
15	E2F6	chr21:40757493-40758089	A549	lung:	n/a	chr21:40757947-40757956
16	EBF1	chr21:40757517-40757875	GM12878	blood:	n/a	n/a
17	EBF1	chr21:40757654-40757903	GM12878	blood:	n/a	n/a
18	EP300	chr21:40757639-40757796	GM12878	blood:	n/a	n/a
19	EP300	chr21:40757343-40758131	HepG2	liver:	n/a	n/a
20	EP300	chr21:40757366-40758012	HepG2	liver:	n/a	n/a
21	EP300	chr21:40757389-40758021	HepG2	liver:	n/a	n/a
22	FOSL2	chr21:40757406-40757963	HepG2	liver:	n/a	n/a
23	FOXA1	chr21:40757335-40757909	HepG2	liver:	n/a	n/a
24	FOXA1	chr21:40757515-40757927	HepG2	liver:	n/a	n/a
25	HA-E2F1	chr21:40757499-40758168	MCF-7	breast:	n/a	chr21:40757947-40757956
26	HDAC2	chr21:40757496-40757837	HepG2	liver:	n/a	n/a
27	HEY1	chr21:40756667-40758658	HepG2	liver:	n/a	n/a
28	HEY1	chr21:40756988-40758695	HepG2	liver:	n/a	n/a
29	HMGN3	chr21:40757796-40757996	K562	blood:	n/a	n/a
30	HNF4A	chr21:40757432-40757977	HepG2	liver:	n/a	chr21:40757750-40757765 chr21:40757695-40757710
31	HNF4A	chr21:40757390-40757945	HepG2	liver:	n/a	chr21:40757750-40757765 chr21:40757695-40757710
32	HNF4A	chr21:40757341-40758033	HepG2	liver:	n/a	chr21:40757750-40757765 chr21:40757695-40757710
33	HNF4G	chr21:40757399-40758019	HepG2	liver:	n/a	chr21:40757694-40757709
34	HNF4G	chr21:40757442-40757984	HepG2	liver:	n/a	chr21:40757694-40757709
35	JUND	chr21:40757537-40758385	HepG2	liver:	n/a	chr21:40758311-40758319
36	MAFF	chr21:40757637-40757865	HepG2	liver:	n/a	n/a
37	MAFK	chr21:40757572-40758010	HepG2	liver:	n/a	n/a
38	MAFK	chr21:40757626-40757911	HepG2	liver:	n/a	n/a
39	MAX	chr21:40757061-40758668	HepG2	liver:	n/a	chr21:40758587-40758603
40	MAX	chr21:40757566-40757898	A549	lung:	n/a	n/a
41	MAX	chr21:40757342-40758300	A549	lung:	n/a	n/a
42	MAX	chr21:40757484-40758211	SK-N-SH	brain:	n/a	n/a
43	MAX	chr21:40757401-40758591	HepG2	liver:	n/a	n/a
44	MAX	chr21:40757395-40758575	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr21:40757421-40758246	A549	lung:	n/a	n/a
46	MAX	chr21:40757599-40758627	NB4	blood:	n/a	chr21:40758587-40758603
47	MAX	chr21:40757499-40758096	ECC-1	luminal epithelium:	n/a	n/a
48	MAZ	chr21:40757811-40758190	GM12878	blood:	n/a	n/a
49	MAZ	chr21:40757083-40758474	HepG2	liver:	n/a	n/a
50	MXI1	chr21:40757135-40758592	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40757691-40757741	HAEpiC	amniotic membrane:	n/a
2	chr21:40757899-40757949	RPTEC	kidney:	n/a
3	chr21:40757691-40757741	GM19239	blood:	n/a
4	chr21:40757750-40757800	HPAEpiC	pulmonary alveolar:	n/a
5	chr21:40757750-40757800	HEEpiC	esophagus:	n/a
6	chr21:40757691-40757741	Caco-2	colon:	n/a
7	chr21:40757750-40757800	HUVEC	blood vessel:	n/a
8	chr21:40757899-40757949	AG09319	gingival:	n/a
9	chr21:40757899-40757949	HIPEpiC	eye:	n/a
10	chr21:40757691-40757741	LNCaP	prostate:	n/a
11	chr21:40757750-40757800	Jurkat	blood:	n/a
12	chr21:40757750-40757800	HCM	heart:	n/a
13	chr21:40757899-40757949	ovcar-3	ovarian:	n/a
14	chr21:40757691-40757741	AoSMC	blood vessel:	n/a
15	chr21:40757691-40757741	GM12878	blood:	n/a
16	chr21:40757750-40757800	Hela-S3	cervix:	n/a
17	chr21:40757750-40757800	AG04450	lung:	fetal
18	chr21:40757750-40757800	GM12878	blood:	n/a
19	chr21:40757899-40757949	U87	brain:	n/a
20	chr21:40757750-40757800	IMR90	lung:	fetal
21	chr21:40757899-40757949	HNPCEpiC	eye:	n/a
22	chr21:40757899-40757949	HUVEC	blood vessel:	n/a
23	chr21:40757899-40757949	HCF	heart:	n/a
24	chr21:40757750-40757800	Hepatocyte	liver:	n/a
25	chr21:40757750-40757800	Caco-2	colon:	n/a
26	chr21:40757750-40757800	SKMC	muscle:	n/a
27	chr21:40757750-40757800	CMK	blood:	n/a
28	chr21:40757899-40757949	PANC-1	pancreas:	n/a
29	chr21:40757899-40757949	HEEpiC	esophagus:	n/a
30	chr21:40757750-40757800	NB4	blood:	n/a
31	chr21:40757691-40757741	SK-N-SH	brain:	n/a
32	chr21:40757899-40757949	HL-60	blood:	n/a
33	chr21:40757750-40757800	HRCEpiC	kidney:	n/a
34	chr21:40757750-40757800	H1-hESC	embryonic stem cell:	embryo
35	chr21:40757691-40757741	HEEpiC	esophagus:	n/a
36	chr21:40757691-40757741	PrEC	prostate:	n/a
37	chr21:40757691-40757741	ovcar-3	ovarian:	n/a
38	chr21:40757899-40757949	AG04450	lung:	fetal
39	chr21:40757899-40757949	HAEpiC	amniotic membrane:	n/a
40	chr21:40757691-40757741	T-47D	breast:	n/a
41	chr21:40757899-40757949	MCF-7	breast:	n/a
42	chr21:40757691-40757741	K562	blood:	n/a
43	chr21:40757750-40757800	HMEC	breast:	n/a
44	chr21:40757750-40757800	AoSMC	blood vessel:	n/a
45	chr21:40757750-40757800	PFSK-1	brain:	n/a
46	chr21:40757899-40757949	T-47D	breast:	n/a
47	chr21:40757899-40757949	AoSMC	blood vessel:	n/a
48	chr21:40757750-40757800	SAEC	small airway:	n/a
49	chr21:40757750-40757800	ovcar-3	ovarian:	n/a
50	chr21:40757750-40757800	NT2-D1	testis:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40755802..40758273-chr21:40758369..40760779,2	MCF-7	breast:
2	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
3	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:
4	21:40686083-40686932..21:40757151-40764378	K562	blood:
5	21:40687235-40690033..21:40757151-40764378	K562	blood:
6	chr21:40683979..40686074-chr21:40756001..40757599,2	K562	blood:
7	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
8	chr21:40750855..40754449-chr21:40757264..40761324,13	K562	blood:
9	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
10	chr21:40717517..40723762-chr21:40756232..40761980,18	MCF-7	breast:
11	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
12	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
13	chr21:40750891..40755008-chr21:40755976..40761346,13	MCF-7	breast:
14	chr21:40750751..40754678-chr21:40755594..40761324,12	K562	blood:
15	chr21:40750392..40754801-chr21:40757428..40762186,12	MCF-7	breast:
16	chr21:40693407..40696384-chr21:40756189..40758708,3	MCF-7	breast:
17	chr21:40717665..40724454-chr21:40756191..40763334,22	MCF-7	breast:
18	chr21:40757591..40761225-chr21:40763023..40767191,7	K562	blood:

No data

Variant related genes	Relation type
WRB	TF binding region
WRB	CpG island
ENSG00000255568	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000205581	chromatin interactions
ENSG00000238556	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000238141	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551201865	chr21:40757584-40757585	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs186336669	chr21:40757589-40757590	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs563184587	chr21:40757633-40757634	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs532185050	chr21:40757642-40757643	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs552042371	chr21:40757696-40757697	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs62223056	chr21:40757711-40757712	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs528141695	chr21:40757720-40757721	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs548204502	chr21:40757742-40757743	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs568038570	chr21:40757744-40757745	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs74399595	chr21:40757766-40757767	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs76501049	chr21:40757827-40757828	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs371448328	chr21:40757859-40757860	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs571114881	chr21:40757867-40757868	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs540025975	chr21:40757875-40757876	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs190392484	chr21:40757877-40757878	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs2299739	chr21:40757887-40757888	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs535560902	chr21:40757934-40757935	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40753000-40758000	Weak transcription	Small Intestine	intestine
2	chr21:40753200-40759400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:40753200-40759800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40753400-40757600	Weak transcription	Primary T cells from cord blood	blood
5	chr21:40753400-40757600	Weak transcription	Esophagus	oesophagus
6	chr21:40753400-40757600	Weak transcription	Fetal Lung	lung
7	chr21:40753400-40757600	Weak transcription	Fetal Thymus	thymus
8	chr21:40753400-40757600	Weak transcription	Right Atrium	heart
9	chr21:40753400-40757600	Weak transcription	Thymus	Thymus
10	chr21:40753400-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:40753400-40759400	Weak transcription	Aorta	Aorta
12	chr21:40753400-40760200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr21:40753600-40757600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:40753600-40757600	Weak transcription	NHEK	skin
15	chr21:40753600-40757800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr21:40753600-40757800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:40753600-40758000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr21:40753600-40758000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr21:40753600-40758000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:40753600-40758200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:40753600-40758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr21:40753600-40759000	Weak transcription	Hela-S3	cervix
23	chr21:40753600-40759000	Weak transcription	K562	blood
24	chr21:40753600-40759200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:40753600-40759200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:40753600-40759600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:40754600-40757600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr21:40754600-40758200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr21:40754800-40759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:40756000-40758000	Active TSS	HepG2	liver
31	chr21:40756200-40758000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr21:40756400-40757600	Enhancers	Primary hematopoietic stem cells	blood
33	chr21:40756600-40757600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr21:40756600-40757600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:40756600-40757600	Enhancers	HMEC	breast
36	chr21:40756600-40757600	Enhancers	HUVEC	blood vessel
37	chr21:40756600-40758000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:40756600-40758000	Active TSS	Liver	Liver
39	chr21:40756600-40759200	Enhancers	Fetal Heart	heart
40	chr21:40756600-40759400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:40756600-40759600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:40756800-40757600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:40756800-40757600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr21:40756800-40757600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr21:40756800-40757600	Strong transcription	Lung	lung
46	chr21:40756800-40757600	Strong transcription	Dnd41	blood
47	chr21:40756800-40757600	Enhancers	NHDF-Ad	bronchial
48	chr21:40756800-40757600	Genic enhancers	NHLF	lung
49	chr21:40756800-40757800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:40756800-40758200	Active TSS	Brain Inferior Temporal Lobe	brain

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