Variant report

Variant	esv3438548
Chromosome Location	chr21:45283674-45286522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:570)
CpG islands
(count:366)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45286059-45286524	K562	blood:	n/a	n/a
2	ATF2	chr21:45286399-45287031	GM12878	blood:	n/a	n/a
3	ATF2	chr21:45286491-45286939	GM12878	blood:	n/a	n/a
4	BACH1	chr21:45284340-45284349	K562	blood:	n/a	n/a
5	BACH1	chr21:45285616-45285640	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:45284027-45284525	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr21:45286058-45286373	GM12878	blood:	n/a	n/a
8	BCLAF1	chr21:45286489-45287012	GM12878	blood:	n/a	chr21:45286792-45286801
9	BCLAF1	chr21:45284000-45284450	GM12878	blood:	n/a	chr21:45284332-45284345 chr21:45284166-45284179 chr21:45284314-45284327 chr21:45284170-45284183
10	BHLHE40	chr21:45284193-45284534	HepG2	liver:	n/a	chr21:45284462-45284478
11	BHLHE40	chr21:45284071-45284585	K562	blood:	n/a	chr21:45284172-45284188 chr21:45284462-45284478 chr21:45284164-45284180
12	BHLHE40	chr21:45284068-45284585	GM12878	blood:	n/a	chr21:45284172-45284188 chr21:45284462-45284478 chr21:45284164-45284180
13	BHLHE40	chr21:45286465-45287173	GM12878	blood:	n/a	chr21:45286738-45286754
14	BRCA1	chr21:45284302-45284416	Hela-S3	cervix:	n/a	n/a
15	CCNT2	chr21:45285022-45285986	K562	blood:	n/a	n/a
16	CCNT2	chr21:45284045-45284622	K562	blood:	n/a	chr21:45284353-45284362
17	CEBPD	chr21:45284078-45284373	HepG2	liver:	n/a	n/a
18	CHD1	chr21:45284090-45284502	GM12878	blood:	n/a	n/a
19	CHD1	chr21:45285373-45287061	GM12878	blood:	n/a	chr21:45285734-45285744 chr21:45285657-45285667
20	CHD2	chr21:45285709-45285867	GM12878	blood:	n/a	chr21:45285734-45285744
21	CHD2	chr21:45284192-45284518	K562	blood:	n/a	n/a
22	CHD2	chr21:45285627-45285889	K562	blood:	n/a	chr21:45285734-45285744 chr21:45285657-45285667
23	CHD2	chr21:45284067-45284688	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr21:45284141-45284608	GM12878	blood:	n/a	n/a
25	CHD2	chr21:45285766-45285790	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr21:45286354-45287022	GM12878	blood:	n/a	n/a
27	CHD2	chr21:45284278-45284502	HepG2	liver:	n/a	n/a
28	CREB1	chr21:45284375-45284620	A549	lung:	n/a	n/a
29	CTBP2	chr21:45285510-45285793	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr21:45285220-45285370	GM12874	blood:	n/a	n/a
31	CTCF	chr21:45285259-45285434	HepG2	liver:	n/a	n/a
32	CTCF	chr21:45285267-45285368	GM10248	blood:	n/a	n/a
33	CTCF	chr21:45284444-45284541	GM12891	blood:	n/a	n/a
34	CTCF	chr21:45284443-45284524	GM13976	blood:	n/a	n/a
35	CTCF	chr21:45285200-45285405	GM19240	blood:	n/a	chr21:45285204-45285217
36	CTCF	chr21:45284469-45284543	GM13977	blood:	n/a	n/a
37	CTCF	chr21:45285173-45285374	K562	blood:	n/a	chr21:45285204-45285217
38	CTCF	chr21:45284388-45284519	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:45285229-45285401	GM13977	blood:	n/a	n/a
40	CTCF	chr21:45285192-45285382	GM12891	blood:	n/a	chr21:45285204-45285217
41	CTCF	chr21:45284460-45284610	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr21:45284421-45284507	GM19239	blood:	n/a	n/a
43	CTCF	chr21:45284440-45284538	GM12892	blood:	n/a	n/a
44	CTCF	chr21:45285289-45285352	GM13976	blood:	n/a	n/a
45	CTCF	chr21:45284498-45284559	GM10266	blood:	n/a	n/a
46	CTCF	chr21:45284420-45284570	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr21:45285260-45285410	GM12867	blood:	n/a	n/a
48	CTCF	chr21:45285234-45285332	MCF-7	breast:	n/a	n/a
49	CTCF	chr21:45284380-45284530	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr21:45285265-45285376	LNCaP	prostate:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45285448-45285498	HCPEpiC	choroid plexus:	n/a
2	chr21:45285448-45285498	SK-N-SH	brain:	n/a
3	chr21:45285448-45285498	AG04450	lung:	fetal
4	chr21:45285836-45285886	NH-A	brain:	n/a
5	chr21:45284362-45284412	Hela-S3	cervix:	n/a
6	chr21:45284344-45284394	RPTEC	kidney:	n/a
7	chr21:45285898-45285948	HCM	heart:	n/a
8	chr21:45285448-45285498	HRCEpiC	kidney:	n/a
9	chr21:45285898-45285948	ECC-1	luminal epithelium:	n/a
10	chr21:45285898-45285948	GM12892	blood:	n/a
11	chr21:45284362-45284412	NHBE	bronchial:	n/a
12	chr21:45284362-45284412	BJ	skin:	n/a
13	chr21:45285448-45285498	PrEC	prostate:	n/a
14	chr21:45285898-45285948	Hepatocyte	liver:	n/a
15	chr21:45284362-45284412	HCT-116	colon:	n/a
16	chr21:45284425-45284475	GM06990	blood:	n/a
17	chr21:45284425-45284475	A549	lung:	n/a
18	chr21:45285448-45285498	GM06990	blood:	n/a
19	chr21:45284362-45284412	H1-hESC	embryonic stem cell:	embryo
20	chr21:45285898-45285948	Hela-S3	cervix:	n/a
21	chr21:45284425-45284475	AG10803	skin:	n/a
22	chr21:45284425-45284475	LNCaP	prostate:	n/a
23	chr21:45285898-45285948	LNCaP	prostate:	n/a
24	chr21:45284344-45284394	ovcar-3	ovarian:	n/a
25	chr21:45285898-45285948	HRCEpiC	kidney:	n/a
26	chr21:45284425-45284475	NHBE	bronchial:	n/a
27	chr21:45284344-45284394	K562	blood:	n/a
28	chr21:45284344-45284394	NHDF-neo	bronchial:	n/a
29	chr21:45285898-45285948	GM12878	blood:	n/a
30	chr21:45285836-45285886	SKMC	muscle:	n/a
31	chr21:45285448-45285498	HepG2	liver:	n/a
32	chr21:45285448-45285498	AG09319	gingival:	n/a
33	chr21:45285898-45285948	A549	lung:	n/a
34	chr21:45285836-45285886	ECC-1	luminal epithelium:	n/a
35	chr21:45284344-45284394	ProgFib	skin:	n/a
36	chr21:45285898-45285948	BJ	skin:	n/a
37	chr21:45284362-45284412	SK-N-SH_RA	brain:	n/a
38	chr21:45284362-45284412	HEEpiC	esophagus:	n/a
39	chr21:45285898-45285948	SK-N-SH_RA	brain:	n/a
40	chr21:45285898-45285948	AG09319	gingival:	n/a
41	chr21:45284344-45284394	HNPCEpiC	eye:	n/a
42	chr21:45284344-45284394	Caco-2	colon:	n/a
43	chr21:45285836-45285886	NT2-D1	testis:	n/a
44	chr21:45285898-45285948	NHBE	bronchial:	n/a
45	chr21:45285448-45285498	GM19239	blood:	n/a
46	chr21:45285836-45285886	HCT-116	colon:	n/a
47	chr21:45285448-45285498	SKMC	muscle:	n/a
48	chr21:45285836-45285886	HCPEpiC	choroid plexus:	n/a
49	chr21:45284344-45284394	PANC-1	pancreas:	n/a
50	chr21:45285448-45285498	Hepatocyte	liver:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45285418..45288376-chr21:45321880..45324021,2	K562	blood:
2	chr21:45283616..45286882-chr21:45299913..45305661,6	MCF-7	breast:
3	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
4	chr21:45283298..45287513-chr21:45338855..45343382,5	K562	blood:
5	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
6	chr21:45283663..45287678-chr21:45338795..45345768,12	K562	blood:
7	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
8	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
9	chr21:45284356..45288156-chr21:45335500..45338176,5	K562	blood:
10	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
11	chr21:45281617..45284138-chr21:45284201..45287466,4	MCF-7	breast:
12	chr21:45285221..45285740-chr21:45337793..45338672,2	MCF-7	breast:
13	chr21:45282912..45284880-chr21:45350407..45352499,2	K562	blood:
14	chr21:45282036..45289054-chr21:45334704..45338842,9	K562	blood:
15	chr21:45228592..45232844-chr21:45283509..45286625,5	MCF-7	breast:
16	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
17	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
18	chr19:2543070..2544057-chr21:45284224..45284926,2	Hela-S3	cervix:
19	chr21:45240125..45242679-chr21:45283332..45285060,2	MCF-7	breast:
20	chr21:45284242..45287080-chr21:45339493..45341946,2	MCF-7	breast:
21	chr21:45284985..45287311-chr21:45344207..45345768,2	K562	blood:
22	chr21:45282912..45284880-chr21:45350407..45353939,3	K562	blood:
23	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1-3	chr21:45286500-45286546	NONHSAT082463

No data

Variant related genes	Relation type
AGPAT3	TF binding region
AGPAT3	CpG island
ENSG00000199598	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000215458	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376230346	chr21:45283706-45283707	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs374748758	chr21:45283729-45283730	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs572588471	chr21:45283774-45283775	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs145154049	chr21:45283806-45283807	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs55939443	chr21:45283832-45283833	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35669851	chr21:45283833-45283834	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs190956748	chr21:45283834-45283835	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs562664777	chr21:45283840-45283841	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs529661641	chr21:45283841-45283842	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs547796440	chr21:45283848-45283849	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs528054058	chr21:45283849-45283850	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs566187978	chr21:45283874-45283875	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs372339605	chr21:45283930-45283931	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs142153654	chr21:45283948-45283949	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs551898532	chr21:45283972-45283973	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs570701125	chr21:45283986-45283987	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs115161948	chr21:45284007-45284008	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs376149406	chr21:45284008-45284009	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs538090550	chr21:45284013-45284014	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs35376476	chr21:45284015-45284016	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs397810465	chr21:45284021-45284022	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs374766143	chr21:45284111-45284112	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs556795253	chr21:45284137-45284138	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs568682731	chr21:45284153-45284154	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs62228689	chr21:45284209-45284210	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62228690	chr21:45284210-45284211	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111616919	chr21:45284216-45284217	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs572527150	chr21:45284243-45284244	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs546319260	chr21:45284253-45284254	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs540086833	chr21:45284262-45284263	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs563172536	chr21:45284267-45284268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs558327690	chr21:45284292-45284293	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs576943700	chr21:45284319-45284320	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs372652913	chr21:45284321-45284322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs544095373	chr21:45284325-45284326	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs562765499	chr21:45284376-45284377	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs529953459	chr21:45284409-45284410	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs541377718	chr21:45284477-45284478	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs181019024	chr21:45284492-45284493	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs551793526	chr21:45284508-45284509	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs551839778	chr21:45284529-45284530	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs570481855	chr21:45284530-45284531	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs531906016	chr21:45284556-45284557	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs550124496	chr21:45284693-45284694	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs148913001	chr21:45285042-45285043	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs535778477	chr21:45285271-45285272	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554554872	chr21:45285438-45285439	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs186151975	chr21:45285456-45285457	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs539879119	chr21:45285516-45285517	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs558252243	chr21:45285578-45285579	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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 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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:527 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:45279400-45284000	Weak transcription	Right Ventricle	heart
3	chr21:45280400-45284000	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:45280600-45283800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:45280600-45284000	Weak transcription	Fetal Lung	lung
6	chr21:45280800-45283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:45280800-45283800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45280800-45284000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:45280800-45284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:45280800-45284000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr21:45280800-45284000	Weak transcription	Small Intestine	intestine
12	chr21:45280800-45284000	Weak transcription	A549	lung
13	chr21:45280800-45284000	Weak transcription	NHEK	skin
14	chr21:45280800-45284000	Weak transcription	NHLF	lung
15	chr21:45280800-45284200	Weak transcription	Brain Substantia Nigra	brain
16	chr21:45281000-45283800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:45281000-45283800	Weak transcription	HMEC	breast
18	chr21:45281000-45284000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:45281000-45284000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr21:45281000-45284000	Weak transcription	Spleen	Spleen
21	chr21:45281000-45284200	Weak transcription	Gastric	stomach
22	chr21:45281200-45284000	Weak transcription	Ovary	ovary
23	chr21:45281200-45284000	Weak transcription	Psoas Muscle	Psoas
24	chr21:45281600-45284000	Weak transcription	Left Ventricle	heart
25	chr21:45281600-45284200	Weak transcription	Lung	lung
26	chr21:45281800-45283800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr21:45281800-45284000	Weak transcription	Adipose Nuclei	Adipose
28	chr21:45281800-45284000	Weak transcription	Colonic Mucosa	Colon
29	chr21:45281800-45284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:45282000-45283800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:45282000-45284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr21:45282000-45284000	Weak transcription	Stomach Mucosa	stomach
33	chr21:45282000-45284200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr21:45282000-45284200	Weak transcription	Pancreas	Pancrea
35	chr21:45282200-45283800	Weak transcription	Thymus	Thymus
36	chr21:45283400-45283800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:45283400-45284000	Enhancers	Primary B cells from cord blood	blood
38	chr21:45283400-45284000	Enhancers	Primary B cells from peripheral blood	blood
39	chr21:45283400-45284000	Enhancers	Primary hematopoietic stem cells	blood
40	chr21:45283400-45284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr21:45283400-45284000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr21:45283400-45284000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:45283400-45284000	Enhancers	Brain Anterior Caudate	brain
44	chr21:45283400-45284000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr21:45283400-45284000	Enhancers	K562	blood
46	chr21:45283400-45284200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr21:45283400-45284200	Flanking Active TSS	GM12878-XiMat	blood
48	chr21:45283400-45284400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr21:45283400-45285600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr21:45283600-45283800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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