Variant report

Variant	esv1803193
Chromosome Location	chr21:44851265-44860542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:285)
CpG islands
(count:122)
Chromatin interactive
region (count:33)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44859226-44859868	HepG2	liver:	n/a	n/a
2	ATF2	chr21:44853247-44853969	GM12878	blood:	n/a	n/a
3	BATF	chr21:44853339-44853730	GM12878	blood:	n/a	n/a
4	BATF	chr21:44853200-44853750	GM12878	blood:	n/a	n/a
5	BCL11A	chr21:44853402-44853700	GM12878	blood:	n/a	n/a
6	BCL3	chr21:44860286-44861960	A549	lung:	n/a	chr21:44861341-44861350
7	BCL3	chr21:44860227-44861862	A549	lung:	n/a	chr21:44861341-44861350
8	BCLAF1	chr21:44853279-44853707	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:44853277-44853773	GM12878	blood:	n/a	n/a
10	BRCA1	chr21:44859315-44859778	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr21:44860375-44862011	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr21:44860363-44861576	A549	lung:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
13	CEBPB	chr21:44860408-44861605	Hela-S3	cervix:	n/a	chr21:44861022-44861033 chr21:44861021-44861032 chr21:44861023-44861032
14	CEBPB	chr21:44859316-44859687	A549	lung:	n/a	n/a
15	CEBPB	chr21:44859351-44859652	HepG2	liver:	n/a	n/a
16	CEBPB	chr21:44859366-44859680	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr21:44860367-44862004	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr21:44853407-44853633	GM12878	blood:	n/a	n/a
19	CREB1	chr21:44859123-44859435	A549	lung:	n/a	n/a
20	CREB1	chr21:44853133-44853644	GM12878	blood:	n/a	chr21:44853410-44853423
21	CREB1	chr21:44859161-44859589	A549	lung:	n/a	n/a
22	CTCF	chr21:44859360-44859510	RPTEC	kidney:	n/a	n/a
23	CTCF	chr21:44851140-44851332	GM19239	blood:	n/a	n/a
24	CTCF	chr21:44859528-44859564	MCF-7	breast:	n/a	n/a
25	CTCF	chr21:44859340-44859490	GM12864	blood:	n/a	n/a
26	CTCF	chr21:44859474-44859625	HepG2	liver:	n/a	n/a
27	CTCF	chr21:44859460-44859610	HEK293	kidney:	n/a	n/a
28	CTCF	chr21:44859480-44859630	HepG2	liver:	n/a	n/a
29	CTCF	chr21:44859460-44859610	HCT-116	colon:	n/a	n/a
30	CTCF	chr21:44859270-44859942	A549	lung:	n/a	n/a
31	CTCF	chr21:44859540-44859690	Caco-2	colon:	n/a	n/a
32	CTCF	chr21:44859420-44859570	MCF-7	breast:	n/a	n/a
33	CTCF	chr21:44859520-44859670	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr21:44852989-44853014	GM13977	blood:	n/a	n/a
35	CTCF	chr21:44859420-44859570	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr21:44859460-44859610	HRE	kidney:	n/a	n/a
37	CTCF	chr21:44859440-44859590	HRE	kidney:	n/a	n/a
38	CTCF	chr21:44859484-44859597	MCF-7	breast:	n/a	n/a
39	CTCF	chr21:44859464-44859626	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr21:44859360-44859510	MCF-7	breast:	n/a	n/a
41	CTCF	chr21:44859720-44859870	GM12872	blood:	n/a	n/a
42	CTCF	chr21:44859478-44859571	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr21:44851700-44851850	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr21:44851251-44851265	GM19238	blood:	n/a	n/a
45	CTCF	chr21:44859460-44859610	RPTEC	kidney:	n/a	n/a
46	CTCF	chr21:44859480-44859630	GM12864	blood:	n/a	n/a
47	CTCF	chr21:44859460-44859610	HepG2	liver:	n/a	n/a
48	CTCF	chr21:44859720-44859870	HRE	kidney:	n/a	n/a
49	CTCF	chr21:44859480-44859630	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr21:44859440-44859590	HRPEpiC	eye:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44851244-44851294	AG04449	skin:	fetal
2	chr21:44851244-44851294	K562	blood:	n/a
3	chr21:44851244-44851294	Caco-2	colon:	n/a
4	chr21:44853470-44853520	AG09309	skin:	n/a
5	chr21:44851244-44851294	HMEC	breast:	n/a
6	chr21:44853470-44853520	HRPEpiC	eye:	n/a
7	chr21:44851244-44851294	HCT-116	colon:	n/a
8	chr21:44851244-44851294	ECC-1	luminal epithelium:	n/a
9	chr21:44851244-44851294	BE2_C	brain:	n/a
10	chr21:44853470-44853520	Jurkat	blood:	n/a
11	chr21:44853470-44853520	SK-N-SH	brain:	n/a
12	chr21:44853470-44853520	Caco-2	colon:	n/a
13	chr21:44853470-44853520	AG10803	skin:	n/a
14	chr21:44851244-44851294	HRPEpiC	eye:	n/a
15	chr21:44851244-44851294	NT2-D1	testis:	n/a
16	chr21:44853470-44853520	K562	blood:	n/a
17	chr21:44851244-44851294	AG09309	skin:	n/a
18	chr21:44851244-44851294	T-47D	breast:	n/a
19	chr21:44853470-44853520	IMR90	lung:	fetal
20	chr21:44853470-44853520	HEEpiC	esophagus:	n/a
21	chr21:44853470-44853520	NH-A	brain:	n/a
22	chr21:44853470-44853520	HEK293	kidney:	embryo
23	chr21:44851244-44851294	GM19239	blood:	n/a
24	chr21:44853470-44853520	HCPEpiC	choroid plexus:	n/a
25	chr21:44851244-44851294	BJ	skin:	n/a
26	chr21:44851244-44851294	ovcar-3	ovarian:	n/a
27	chr21:44851244-44851294	MCF-7	breast:	n/a
28	chr21:44853470-44853520	NHBE	bronchial:	n/a
29	chr21:44851244-44851294	HEEpiC	esophagus:	n/a
30	chr21:44853470-44853520	AoSMC	blood vessel:	n/a
31	chr21:44853470-44853520	PFSK-1	brain:	n/a
32	chr21:44853470-44853520	PrEC	prostate:	n/a
33	chr21:44853470-44853520	T-47D	breast:	n/a
34	chr21:44851244-44851294	A549	lung:	n/a
35	chr21:44853470-44853520	AG09319	gingival:	n/a
36	chr21:44851244-44851294	Hela-S3	cervix:	n/a
37	chr21:44851244-44851294	NB4	blood:	n/a
38	chr21:44851244-44851294	U87	brain:	n/a
39	chr21:44851244-44851294	HRE	kidney:	n/a
40	chr21:44853470-44853520	HNPCEpiC	eye:	n/a
41	chr21:44851244-44851294	PFSK-1	brain:	n/a
42	chr21:44853470-44853520	HCM	heart:	n/a
43	chr21:44851244-44851294	HAEpiC	amniotic membrane:	n/a
44	chr21:44851244-44851294	HCF	heart:	n/a
45	chr21:44851244-44851294	AoSMC	blood vessel:	n/a
46	chr21:44851244-44851294	LNCaP	prostate:	n/a
47	chr21:44851244-44851294	HEK293	kidney:	embryo
48	chr21:44853470-44853520	HRE	kidney:	n/a
49	chr21:44851244-44851294	SAEC	small airway:	n/a
50	chr21:44851244-44851294	Jurkat	blood:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44854641..44856916-chr21:44907160..44909918,2	MCF-7	breast:
2	chr21:44855643..44857176-chr21:44881790..44884286,2	MCF-7	breast:
3	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
4	chr2:139958866..139960367-chr21:44857540..44859244,2	MCF-7	breast:
5	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
6	chr21:44856303..44858740-chr21:44869101..44871685,2	MCF-7	breast:
7	chr1:98386033..98386591-chr21:44860424..44861197,2	Hela-S3	cervix:
8	chr21:44852369..44854174-chr21:44865462..44867210,2	K562	blood:
9	chr21:44850311..44852792-chr21:45138302..45140722,2	MCF-7	breast:
10	chr21:44856722..44860442-chr21:44872763..44876601,3	MCF-7	breast:
11	chr21:44853886..44856058-chr21:44856765..44858761,2	K562	blood:
12	chr21:44858418..44861523-chr21:44913554..44916370,3	MCF-7	breast:
13	chr21:44845627..44848454-chr21:44859056..44862148,4	K562	blood:
14	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
15	chr17:81008619..81010955-chr21:44855627..44857871,2	MCF-7	breast:
16	chr21:44855929..44858122-chr21:44875140..44877495,2	MCF-7	breast:
17	chr21:44850854..44853003-chr21:44861192..44863321,2	K562	blood:
18	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
19	chr21:44849473..44851982-chr21:44934028..44935946,2	MCF-7	breast:
20	chr21:44860437..44861265-chr3:149094930..149095524,2	Hela-S3	cervix:
21	chr21:44855143..44857943-chr21:44904411..44907175,2	MCF-7	breast:
22	chr21:44852002..44854058-chr21:45077560..45079226,2	K562	blood:
23	chr21:44845446..44849726-chr21:44859252..44862423,6	MCF-7	breast:
24	chr21:44856303..44862867-chr21:44920773..44925316,7	MCF-7	breast:
25	chr21:44850547..44853679-chr21:44861256..44863290,3	MCF-7	breast:
26	chr21:44854452..44857638-chr21:44859220..44863254,5	MCF-7	breast:
27	chr21:44854452..44857638-chr21:44859220..44863254,5	MCF-7	breast:
28	chr17:8113190..8113737-chr21:44856899..44857720,2	Hela-S3	cervix:
29	chr21:44855996..44858393-chr21:44863025..44865535,2	MCF-7	breast:
30	chr21:44858668..44862829-chr21:44863145..44867499,5	MCF-7	breast:
31	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
32	chr21:44853886..44856058-chr21:44856765..44858761,2	K562	blood:
33	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIK1-4	chr21:44859455-44859759	XLOC_014105

No data

Variant related genes	Relation type
SIK1	TF binding region
SIK1	CpG island
ENSG00000142178	chromatin interactions
ENSG00000175711	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000188641	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000178999	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 405 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs128543	chr21:44851265-44851266	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146491317	chr21:44851275-44851276	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141089066	chr21:44851277-44851278	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568006308	chr21:44851280-44851281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs376605311	chr21:44851289-44851290	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143489718	chr21:44851290-44851291	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184342738	chr21:44851296-44851297	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368716520	chr21:44851297-44851298	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571889884	chr21:44851325-44851326	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541249802	chr21:44851371-44851372	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539136809	chr21:44851418-44851419	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146774608	chr21:44851462-44851463	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs140441950	chr21:44851463-44851464	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537094566	chr21:44851467-44851468	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559367619	chr21:44851473-44851474	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573561173	chr21:44851489-44851490	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150415401	chr21:44851511-44851512	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559094972	chr21:44851551-44851552	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145235519	chr21:44851554-44851555	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532896437	chr21:44851572-44851573	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374553587	chr21:44851582-44851583	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568105331	chr21:44851584-44851585	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563846866	chr21:44851586-44851587	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112003559	chr21:44851647-44851648	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188301877	chr21:44851675-44851676	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542967102	chr21:44851688-44851689	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561281545	chr21:44851730-44851731	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528765560	chr21:44851758-44851759	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551313103	chr21:44851780-44851781	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181119989	chr21:44851788-44851789	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571851606	chr21:44851851-44851852	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115129435	chr21:44851855-44851856	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550894666	chr21:44851865-44851866	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115589885	chr21:44851877-44851878	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9982722	chr21:44851906-44851907	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149173734	chr21:44851921-44851922	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs146698963	chr21:44851922-44851923	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566947735	chr21:44851927-44851928	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73382120	chr21:44851938-44851939	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73906552	chr21:44851967-44851968	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577406974	chr21:44851977-44851978	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545236052	chr21:44851978-44851979	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569595193	chr21:44851994-44851995	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556880307	chr21:44852064-44852065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185762955	chr21:44852099-44852100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs542775616	chr21:44852106-44852107	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561244420	chr21:44852159-44852160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs190536556	chr21:44852187-44852188	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540916471	chr21:44852195-44852196	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181658022	chr21:44852206-44852207	Weak transcription Enhancers	Chromatin interactive region	2 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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44847400-44852000	Enhancers	Placenta	Placenta
2	chr21:44848000-44851800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr21:44848000-44852000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:44848000-44861400	Weak transcription	Colonic Mucosa	Colon
5	chr21:44848200-44851400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:44848200-44852000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:44848200-44852000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:44848200-44855800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:44848200-44862800	Weak transcription	Right Atrium	heart
10	chr21:44848400-44851400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr21:44848600-44852000	Enhancers	A549	lung
12	chr21:44848600-44853200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:44848600-44856000	Weak transcription	Fetal Intestine Small	intestine
14	chr21:44848800-44851400	Enhancers	Liver	Liver
15	chr21:44849000-44851400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:44849200-44852400	Weak transcription	Ovary	ovary
17	chr21:44849400-44851600	Enhancers	Hela-S3	cervix
18	chr21:44849400-44852000	Weak transcription	HUVEC	blood vessel
19	chr21:44849800-44851400	Enhancers	Primary B cells from cord blood	blood
20	chr21:44849800-44851400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr21:44849800-44852200	Enhancers	Pancreas	Pancrea
22	chr21:44850200-44851400	Flanking Active TSS	GM12878-XiMat	blood
23	chr21:44850200-44851600	Enhancers	Spleen	Spleen
24	chr21:44850200-44852000	Enhancers	Stomach Mucosa	stomach
25	chr21:44850400-44851600	Enhancers	Fetal Intestine Large	intestine
26	chr21:44850400-44852000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:44850600-44851400	Enhancers	Fetal Brain Male	brain
28	chr21:44850600-44851400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr21:44850600-44852000	Enhancers	Brain Germinal Matrix	brain
30	chr21:44850600-44855600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr21:44850800-44851400	Enhancers	Duodenum Mucosa	Duodenum
32	chr21:44850800-44851400	Enhancers	Esophagus	oesophagus
33	chr21:44850800-44851400	Enhancers	HSMM	muscle
34	chr21:44850800-44851400	Enhancers	HSMMtube	muscle
35	chr21:44850800-44851600	Enhancers	Primary B cells from peripheral blood	blood
36	chr21:44850800-44851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:44850800-44855800	Weak transcription	Lung	lung
38	chr21:44851000-44851400	Flanking Active TSS	Dnd41	blood
39	chr21:44851000-44851600	Weak transcription	Fetal Brain Female	brain
40	chr21:44851000-44851600	Enhancers	HepG2	liver
41	chr21:44851000-44859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:44851200-44851400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:44851200-44851400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:44851200-44851400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:44851200-44851400	Enhancers	Adipose Nuclei	Adipose
46	chr21:44851200-44851600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr21:44851200-44851800	Enhancers	Gastric	stomach
48	chr21:44851200-44852000	Enhancers	Fetal Lung	lung
49	chr21:44851400-44852000	Enhancers	Dnd41	blood
50	chr21:44851400-44852600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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