Variant report

Variant	nsv913842
Chromosome Location	chr21:44764895-44792929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:994)
CpG islands
(count:492)
Chromatin interactive
region (count:75)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44775842-44776127	HepG2	liver:	n/a	n/a
2	ATF1	chr21:44772525-44772894	K562	blood:	n/a	n/a
3	ATF2	chr21:44772205-44774417	GM12878	blood:	n/a	n/a
4	ATF2	chr21:44772452-44773405	GM12878	blood:	n/a	n/a
5	ATF3	chr21:44765976-44766222	K562	blood:	n/a	n/a
6	ATF3	chr21:44772298-44772845	GM12878	blood:	n/a	n/a
7	ATF3	chr21:44772440-44772780	GM12878	blood:	n/a	n/a
8	BATF	chr21:44775748-44776091	GM12878	blood:	n/a	n/a
9	BATF	chr21:44788945-44789337	GM12878	blood:	n/a	chr21:44789171-44789181 chr21:44789170-44789181
10	BATF	chr21:44792616-44792788	GM12878	blood:	n/a	n/a
11	BATF	chr21:44772568-44773370	GM12878	blood:	n/a	n/a
12	BATF	chr21:44788955-44789361	GM12878	blood:	n/a	chr21:44789171-44789181 chr21:44789170-44789181
13	BATF	chr21:44773954-44774350	GM12878	blood:	n/a	n/a
14	BCL11A	chr21:44775737-44776008	GM12878	blood:	n/a	chr21:44775992-44776001
15	BCL11A	chr21:44775774-44776072	GM12878	blood:	n/a	chr21:44775992-44776001
16	BCL3	chr21:44788465-44789325	GM12878	blood:	n/a	chr21:44789174-44789183 chr21:44789173-44789182
17	BCL3	chr21:44765915-44766170	GM12878	blood:	n/a	n/a
18	BCL3	chr21:44769536-44769918	GM12878	blood:	n/a	n/a
19	BCL3	chr21:44765986-44766307	GM12878	blood:	n/a	n/a
20	BCL3	chr21:44788279-44789339	GM12878	blood:	n/a	chr21:44789174-44789183 chr21:44789173-44789182
21	BCL3	chr21:44769520-44769977	GM12878	blood:	n/a	n/a
22	BCLAF1	chr21:44775693-44776090	GM12878	blood:	n/a	chr21:44775992-44776001
23	BCLAF1	chr21:44772608-44774355	GM12878	blood:	n/a	n/a
24	BCLAF1	chr21:44772600-44773426	GM12878	blood:	n/a	n/a
25	BHLHE40	chr21:44765886-44766344	K562	blood:	n/a	chr21:44766140-44766149
26	BHLHE40	chr21:44781083-44781283	K562	blood:	n/a	n/a
27	BHLHE40	chr21:44788743-44789319	K562	blood:	n/a	n/a
28	BHLHE40	chr21:44772451-44774372	GM12878	blood:	n/a	chr21:44773802-44773818
29	BHLHE40	chr21:44789015-44789315	HepG2	liver:	n/a	n/a
30	BHLHE40	chr21:44782215-44783208	GM12878	blood:	n/a	n/a
31	BHLHE40	chr21:44784959-44785255	HepG2	liver:	n/a	n/a
32	BHLHE40	chr21:44788758-44789362	GM12878	blood:	n/a	chr21:44789333-44789349
33	BHLHE40	chr21:44775714-44776070	GM12878	blood:	n/a	n/a
34	BHLHE40	chr21:44782818-44783103	K562	blood:	n/a	n/a
35	BHLHE40	chr21:44789947-44790181	GM12878	blood:	n/a	n/a
36	BHLHE40	chr21:44790480-44790513	GM12878	blood:	n/a	n/a
37	BHLHE40	chr21:44781607-44781935	GM12878	blood:	n/a	n/a
38	BHLHE40	chr21:44765928-44766353	HepG2	liver:	n/a	chr21:44766140-44766149
39	BHLHE40	chr21:44771693-44771988	HepG2	liver:	n/a	n/a
40	BHLHE40	chr21:44775768-44776053	HepG2	liver:	n/a	n/a
41	BRCA1	chr21:44775953-44775988	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr21:44775879-44775891	HepG2	liver:	n/a	n/a
43	BRCA1	chr21:44792893-44793491	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr21:44765873-44766262	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr21:44773211-44773515	GM12878	blood:	n/a	n/a
46	CBX3	chr21:44765912-44766310	K562	blood:	n/a	n/a
47	CCNT2	chr21:44782983-44783086	K562	blood:	n/a	n/a
48	CEBPB	chr21:44789144-44789282	HepG2	liver:	n/a	n/a
49	CEBPB	chr21:44765884-44766201	K562	blood:	n/a	chr21:44766016-44766027
50	CEBPB	chr21:44765846-44766211	IMR90	lung:	n/a	chr21:44766016-44766027

(count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44786241-44786291	NT2-D1	testis:	n/a
2	chr21:44781686-44781736	NB4	blood:	n/a
3	chr21:44779213-44779263	K562	blood:	n/a
4	chr21:44782434-44782484	NB4	blood:	n/a
5	chr21:44786241-44786291	NT2-D1	testis:	n/a
6	chr21:44781686-44781736	NB4	blood:	n/a
7	chr21:44779213-44779263	K562	blood:	n/a
8	chr21:44782434-44782484	NB4	blood:	n/a
9	chr21:44782872-44782922	T-47D	breast:	n/a
10	chr21:44782434-44782484	Hela-S3	cervix:	n/a
11	chr21:44781686-44781736	SAEC	small airway:	n/a
12	chr21:44782470-44782520	NHBE	bronchial:	n/a
13	chr21:44779213-44779263	NHDF-neo	bronchial:	n/a
14	chr21:44782872-44782922	CMK	blood:	n/a
15	chr21:44782434-44782484	HEK293	kidney:	embryo
16	chr21:44782497-44782547	PFSK-1	brain:	n/a
17	chr21:44782470-44782520	IMR90	lung:	fetal
18	chr21:44782497-44782547	U87	brain:	n/a
19	chr21:44786241-44786291	SK-N-SH_RA	brain:	n/a
20	chr21:44782434-44782484	SK-N-SH	brain:	n/a
21	chr21:44781686-44781736	HCT-116	colon:	n/a
22	chr21:44781686-44781736	NHBE	bronchial:	n/a
23	chr21:44786241-44786291	Caco-2	colon:	n/a
24	chr21:44782497-44782547	HEEpiC	esophagus:	n/a
25	chr21:44782872-44782922	SK-N-SH	brain:	n/a
26	chr21:44782497-44782547	HRE	kidney:	n/a
27	chr21:44781686-44781736	H1-hESC	embryonic stem cell:	embryo
28	chr21:44781958-44782008	A549	lung:	n/a
29	chr21:44782497-44782547	AG04450	lung:	fetal
30	chr21:44779213-44779263	HCF	heart:	n/a
31	chr21:44782470-44782520	HPAEpiC	pulmonary alveolar:	n/a
32	chr21:44782497-44782547	BE2_C	brain:	n/a
33	chr21:44781686-44781736	ProgFib	skin:	n/a
34	chr21:44782497-44782547	AG04449	skin:	fetal
35	chr21:44782434-44782484	GM12891	blood:	n/a
36	chr21:44779213-44779263	HPAEpiC	pulmonary alveolar:	n/a
37	chr21:44786241-44786291	H1-hESC	embryonic stem cell:	embryo
38	chr21:44779213-44779263	NH-A	brain:	n/a
39	chr21:44786241-44786291	BJ	skin:	n/a
40	chr21:44779213-44779263	HUVEC	blood vessel:	n/a
41	chr21:44782434-44782484	HRE	kidney:	n/a
42	chr21:44786241-44786291	RPTEC	kidney:	n/a
43	chr21:44782872-44782922	HepG2	liver:	n/a
44	chr21:44782470-44782520	A549	lung:	n/a
45	chr21:44782872-44782922	IMR90	lung:	fetal
46	chr21:44786241-44786291	IMR90	lung:	fetal
47	chr21:44782872-44782922	HRCEpiC	kidney:	n/a
48	chr21:44782872-44782922	NH-A	brain:	n/a
49	chr21:44786241-44786291	Hepatocyte	liver:	n/a
50	chr21:44779213-44779263	HMEC	breast:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44773657..44775372-chr21:44796504..44799463,2	MCF-7	breast:
2	chr21:44792472..44794929-chr21:44800038..44801919,2	K562	blood:
3	chr21:44596302..44600320-chr21:44763162..44765941,4	MCF-7	breast:
4	chr21:44760953..44765969-chr21:44827582..44835473,8	MCF-7	breast:
5	chr21:44791851..44794136-chr21:44798285..44800015,2	K562	blood:
6	chr21:44774210..44776288-chr21:44801380..44803823,2	MCF-7	breast:
7	chr10:121201956..121203476-chr21:44763552..44765786,2	MCF-7	breast:
8	chr21:44781106..44783357-chr21:44784005..44786797,3	K562	blood:
9	chr21:44775127..44777356-chr21:45085128..45087430,2	MCF-7	breast:
10	chr21:44760916..44764900-chr21:44922061..44925479,7	MCF-7	breast:
11	chr21:44785083..44788037-chr21:44788095..44789736,2	MCF-7	breast:
12	chr21:44760842..44763171-chr21:44763697..44767030,3	K562	blood:
13	chr21:44763296..44765156-chr21:44933587..44936210,2	MCF-7	breast:
14	chr21:44693692..44695887-chr21:44767951..44769747,2	MCF-7	breast:
15	chr21:44770401..44772882-chr21:44773828..44776725,2	K562	blood:
16	chr21:44762520..44766319-chr21:44766634..44772911,10	MCF-7	breast:
17	chr21:44758057..44765899-chr21:44844420..44848527,21	MCF-7	breast:
18	chr21:44776778..44778930-chr21:44796881..44799530,2	MCF-7	breast:
19	chr21:44590081..44596174-chr21:44761203..44765144,5	MCF-7	breast:
20	chr21:44765255..44767704-chr21:44840490..44843431,2	MCF-7	breast:
21	chr21:44757282..44768663-chr21:44841832..44851703,32	MCF-7	breast:
22	chr21:44763228..44765264-chr21:44934553..44936247,2	MCF-7	breast:
23	chr21:44760744..44765599-chr21:44927861..44932973,6	MCF-7	breast:
24	chr21:44597167..44598866-chr21:44766112..44768773,2	MCF-7	breast:
25	chr21:44766381..44769157-chr21:44770882..44772794,2	K562	blood:
26	chr21:44779843..44781749-chr21:44914569..44917163,2	MCF-7	breast:
27	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
28	chr21:44784945..44787524-chr21:44806309..44807951,2	MCF-7	breast:
29	chr21:44767996..44772227-chr21:44773737..44776120,4	MCF-7	breast:
30	chr21:44776523..44779015-chr21:44786732..44788307,2	MCF-7	breast:
31	chr21:44762637..44765134-chr21:44833534..44838012,6	MCF-7	breast:
32	chr21:44727213..44729404-chr21:44763537..44765714,2	MCF-7	breast:
33	chr21:44778477..44780291-chr21:44788253..44791187,2	K562	blood:
34	chr21:44735042..44737101-chr21:44763924..44765952,2	MCF-7	breast:
35	chr21:44777331..44779083-chr21:44791828..44793778,2	MCF-7	breast:
36	chr21:44762851..44766380-chr21:44911854..44916267,4	MCF-7	breast:
37	chr21:44792171..44794658-chr21:44846170..44848723,2	MCF-7	breast:
38	chr21:44760657..44765448-chr21:44921066..44925837,8	MCF-7	breast:
39	chr21:44763218..44765944-chr21:44956072..44958791,2	MCF-7	breast:
40	chr21:44394782..44396318-chr21:44762639..44765147,2	MCF-7	breast:
41	chr21:44782808..44785727-chr21:44787853..44790103,2	K562	blood:
42	chr21:44792472..44794842-chr21:44800038..44802202,2	K562	blood:
43	chr21:44792038..44794136-chr21:44797022..44799785,2	K562	blood:
44	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:
45	chr21:44778568..44780302-chr21:44848836..44851138,2	MCF-7	breast:
46	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
47	chr21:44778477..44780291-chr21:44788253..44791187,2	K562	blood:
48	chr21:44787122..44790843-chr21:44793154..44798480,6	K562	blood:
49	chr21:44785083..44788037-chr21:44788095..44789736,2	MCF-7	breast:
50	chr21:44788189..44792112-chr21:44793177..44796400,4	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYAA-2	chr21:44783212-44785567	XLOC_013961
2	lnc-CRYAA-2	chr21:44785987-44786446	XLOC_013961
3	lnc-CRYAA-1	chr21:44776024-44776348	XLOC_013960
4	lnc-SIK1-5	chr21:44777430-44779366	XLOC_014102
5	lnc-SIK1-5	chr21:44781365-44782327	XLOC_014102
6	lnc-SIK1-5	chr21:44777715-44779366	XLOC_014102
7	lnc-CRYAA-17	chr21:44762939-44765140	ucscGeneNc_uc002zff_2
8	lnc-CRYAA-1	chr21:44777714-44777849	XLOC_013960
9	lnc-SIK1-5	chr21:44781863-44782209	XLOC_014102

No data

Variant related genes	Relation type
ENSG00000225637	TF binding region
ENSG00000237989	TF binding region
ENSG00000225637	CpG island
ENSG00000237989	CpG island
ENSG00000225637	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000237989	chromatin interactions
DNAJB1	miRNA target sites
RAB6B	miRNA target sites

Extended variants
information (count: 1421 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1421 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs609845	chr21:44764895-44764896	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376951340	chr21:44764896-44764897	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs77622060	chr21:44764902-44764903	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
4	rs547393494	chr21:44764917-44764918	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
5	rs182819389	chr21:44764939-44764940	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
6	rs533490209	chr21:44764946-44764947	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
7	rs148586353	chr21:44764951-44764952	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
8	rs551668600	chr21:44764952-44764953	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
9	rs544801662	chr21:44764953-44764954	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
10	rs377223555	chr21:44764954-44764955	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
11	rs374092696	chr21:44764998-44764999	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
12	rs537271484	chr21:44765013-44765014	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
13	rs549803891	chr21:44765027-44765028	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
14	rs555943177	chr21:44765029-44765030	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs149946655	chr21:44765040-44765041	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs553850578	chr21:44765058-44765059	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs572350554	chr21:44765081-44765082	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs62218950	chr21:44765118-44765119	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557782814	chr21:44765135-44765136	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs145094212	chr21:44765142-44765143	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs77065837	chr21:44765143-44765144	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs544092348	chr21:44765155-44765156	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs76171012	chr21:44765172-44765173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs149124046	chr21:44765186-44765187	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs598237	chr21:44765230-44765231	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs188315164	chr21:44765242-44765243	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs192843020	chr21:44765255-44765256	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs115968034	chr21:44765256-44765257	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs552024759	chr21:44765260-44765261	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs17004526	chr21:44765263-44765264	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11909303	chr21:44765287-44765288	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147886195	chr21:44765314-44765315	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs370712054	chr21:44765328-44765329	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs568159758	chr21:44765450-44765451	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs377393939	chr21:44765483-44765484	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs535574203	chr21:44765488-44765489	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs185189510	chr21:44765500-44765501	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs189201773	chr21:44765508-44765509	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141627611	chr21:44765516-44765517	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs541240080	chr21:44765537-44765538	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs576267031	chr21:44765578-44765579	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs555922	chr21:44765581-44765582	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555186353	chr21:44765585-44765586	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs386819039	chr21:44765608-44765609	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs374562375	chr21:44765609-44765610	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs541093881	chr21:44765627-44765628	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs192485879	chr21:44765660-44765661	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs114667337	chr21:44765697-44765698	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs545085258	chr21:44765714-44765715	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs563999702	chr21:44765728-44765729	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44757600-44770000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44758200-44765600	Enhancers	Stomach Mucosa	stomach
4	chr21:44758600-44765600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:44759600-44772000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr21:44759800-44765200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr21:44759800-44766400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:44760200-44765200	Enhancers	Fetal Intestine Large	intestine
9	chr21:44760200-44766600	Enhancers	Esophagus	oesophagus
10	chr21:44760600-44768000	Weak transcription	Right Atrium	heart
11	chr21:44761200-44765600	Weak transcription	Right Ventricle	heart
12	chr21:44761200-44765800	Weak transcription	HUVEC	blood vessel
13	chr21:44761400-44769600	Enhancers	Fetal Lung	lung
14	chr21:44761600-44765600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:44761800-44768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:44762000-44765800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:44762000-44766000	Weak transcription	HSMMtube	muscle
18	chr21:44762000-44766600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:44762400-44765000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr21:44762600-44765000	Enhancers	Colonic Mucosa	Colon
21	chr21:44762600-44765200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr21:44762600-44766600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:44762600-44769000	Weak transcription	HSMM	muscle
24	chr21:44762800-44765600	Enhancers	Pancreas	Pancrea
25	chr21:44762800-44769600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:44763000-44766600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:44763200-44768200	Weak transcription	Fetal Heart	heart
28	chr21:44763200-44769600	Enhancers	Fetal Thymus	thymus
29	chr21:44763200-44769800	Enhancers	Spleen	Spleen
30	chr21:44763600-44765400	Enhancers	Fetal Intestine Small	intestine
31	chr21:44763600-44768200	Enhancers	HepG2	liver
32	chr21:44763600-44780800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr21:44763800-44765000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr21:44763800-44765200	Enhancers	Fetal Stomach	stomach
35	chr21:44763800-44765200	Enhancers	Ovary	ovary
36	chr21:44763800-44765400	Enhancers	Gastric	stomach
37	chr21:44763800-44766600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr21:44763800-44766800	Enhancers	HMEC	breast
39	chr21:44763800-44767000	Enhancers	Lung	lung
40	chr21:44764000-44765000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:44764000-44765000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:44764000-44766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:44764000-44766200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:44764000-44766600	Enhancers	NHEK	skin
45	chr21:44764000-44767800	Bivalent Enhancer	Placenta	Placenta
46	chr21:44764200-44765000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr21:44764200-44765400	Weak transcription	Hela-S3	cervix
48	chr21:44764400-44765000	Active TSS	Colon Smooth Muscle	Colon
49	chr21:44764400-44766400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:44764400-44769000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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