Variant report

Variant	nsv587674
Chromosome Location	chr21:44823479-44858534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2328)
CpG islands
(count:1833)
Chromatin interactive
region (count:143)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2328 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44835701-44835956	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:44827045-44827434	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:44847335-44847428	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:44823775-44824181	HepG2	liver:	n/a	n/a
5	ATF1	chr21:44846961-44847396	K562	blood:	n/a	chr21:44847265-44847279
6	ATF2	chr21:44853247-44853969	GM12878	blood:	n/a	n/a
7	ATF2	chr21:44834484-44834933	GM12878	blood:	n/a	n/a
8	ATF2	chr21:44847088-44847463	GM12878	blood:	n/a	chr21:44847265-44847279
9	ATF2	chr21:44847082-44847349	H1-hESC	embryonic stem cell:	n/a	chr21:44847265-44847279
10	ATF3	chr21:44832077-44832570	A549	lung:	n/a	n/a
11	ATF3	chr21:44837965-44838548	A549	lung:	n/a	n/a
12	ATF3	chr21:44847018-44847464	A549	lung:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
13	ATF3	chr21:44843997-44844632	A549	lung:	n/a	n/a
14	ATF3	chr21:44842312-44842894	A549	lung:	n/a	n/a
15	ATF3	chr21:44847065-44847399	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
16	ATF3	chr21:44839391-44839777	A549	lung:	n/a	chr21:44839549-44839569
17	ATF3	chr21:44832229-44832540	K562	blood:	n/a	n/a
18	ATF3	chr21:44847090-44847452	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
19	ATF3	chr21:44835572-44836040	A549	lung:	n/a	n/a
20	ATF3	chr21:44833580-44834096	A549	lung:	n/a	n/a
21	ATF3	chr21:44841596-44841907	A549	lung:	n/a	n/a
22	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr21:44845753-44846383	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr21:44829228-44829357	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr21:44834084-44834264	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr21:44831538-44831725	GM12878	blood:	n/a	chr21:44831630-44831640 chr21:44831629-44831640
27	BATF	chr21:44832224-44832481	GM12878	blood:	n/a	chr21:44832354-44832364 chr21:44832353-44832364
28	BATF	chr21:44853339-44853730	GM12878	blood:	n/a	n/a
29	BATF	chr21:44847133-44847409	GM12878	blood:	n/a	n/a
30	BATF	chr21:44829724-44830195	GM12878	blood:	n/a	n/a
31	BATF	chr21:44829959-44830152	GM12878	blood:	n/a	n/a
32	BATF	chr21:44853200-44853750	GM12878	blood:	n/a	n/a
33	BATF	chr21:44831455-44831761	GM12878	blood:	n/a	chr21:44831630-44831640 chr21:44831629-44831640
34	BCL11A	chr21:44853402-44853700	GM12878	blood:	n/a	n/a
35	BCL3	chr21:44840384-44841517	A549	lung:	n/a	n/a
36	BCL3	chr21:44834352-44836225	A549	lung:	n/a	n/a
37	BCL3	chr21:44842472-44843063	A549	lung:	n/a	n/a
38	BCL3	chr21:44829779-44834349	A549	lung:	n/a	chr21:44831632-44831641 chr21:44834192-44834205 chr21:44829830-44829839 chr21:44834100-44834113 chr21:44830927-44830936
39	BCL3	chr21:44830013-44832797	A549	lung:	n/a	chr21:44831632-44831641 chr21:44830927-44830936
40	BCL3	chr21:44841730-44842288	A549	lung:	n/a	n/a
41	BCL3	chr21:44841441-44842016	A549	lung:	n/a	n/a
42	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
43	BCL3	chr21:44847949-44848442	A549	lung:	n/a	n/a
44	BCL3	chr21:44843180-44843551	A549	lung:	n/a	n/a
45	BCL3	chr21:44845701-44846226	A549	lung:	n/a	chr21:44846108-44846117 chr21:44846109-44846122 chr21:44846067-44846080
46	BCL3	chr21:44839114-44839820	A549	lung:	n/a	n/a
47	BCL3	chr21:44834907-44836367	A549	lung:	n/a	n/a
48	BCL3	chr21:44836815-44839031	A549	lung:	n/a	chr21:44837091-44837104
49	BCL3	chr21:44832837-44834359	A549	lung:	n/a	chr21:44834192-44834205 chr21:44834100-44834113
50	BCL3	chr21:44836376-44841098	A549	lung:	n/a	chr21:44837091-44837104

(count:1833 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44836799-44836849	NB4	blood:	n/a
2	chr21:44840368-44840418	PrEC	prostate:	n/a
3	chr21:44834701-44834751	PrEC	prostate:	n/a
4	chr21:44836799-44836849	NB4	blood:	n/a
5	chr21:44840368-44840418	PrEC	prostate:	n/a
6	chr21:44834701-44834751	PrEC	prostate:	n/a
7	chr21:44846625-44846675	NHDF-neo	bronchial:	n/a
8	chr21:44830477-44830527	SKMC	muscle:	n/a
9	chr21:44847054-44847104	HRE	kidney:	n/a
10	chr21:44830921-44830971	ProgFib	skin:	n/a
11	chr21:44834701-44834751	NHBE	bronchial:	n/a
12	chr21:44837158-44837208	ovcar-3	ovarian:	n/a
13	chr21:44847608-44847658	GM06990	blood:	n/a
14	chr21:44827167-44827217	BJ	skin:	n/a
15	chr21:44847606-44847656	RPTEC	kidney:	n/a
16	chr21:44838396-44838446	HL-60	blood:	n/a
17	chr21:44837158-44837208	HEEpiC	esophagus:	n/a
18	chr21:44837158-44837208	HAEpiC	amniotic membrane:	n/a
19	chr21:44840120-44840170	NH-A	brain:	n/a
20	chr21:44853470-44853520	LNCaP	prostate:	n/a
21	chr21:44845971-44846021	Caco-2	colon:	n/a
22	chr21:44845925-44845975	AG10803	skin:	n/a
23	chr21:44843568-44843618	CMK	blood:	n/a
24	chr21:44838396-44838446	HUVEC	blood vessel:	n/a
25	chr21:44829111-44829161	HEEpiC	esophagus:	n/a
26	chr21:44840368-44840418	SK-N-MC	brain:	n/a
27	chr21:44847608-44847658	NHDF-neo	bronchial:	n/a
28	chr21:44832350-44832400	Caco-2	colon:	n/a
29	chr21:44845971-44846021	HUVEC	blood vessel:	n/a
30	chr21:44840368-44840418	ProgFib	skin:	n/a
31	chr21:44845927-44845977	BJ	skin:	n/a
32	chr21:44836799-44836849	SK-N-SH_RA	brain:	n/a
33	chr21:44840965-44841015	GM19239	blood:	n/a
34	chr21:44837027-44837077	AoSMC	blood vessel:	n/a
35	chr21:44851244-44851294	ProgFib	skin:	n/a
36	chr21:44846625-44846675	Jurkat	blood:	n/a
37	chr21:44847608-44847658	PrEC	prostate:	n/a
38	chr21:44840965-44841015	AoSMC	blood vessel:	n/a
39	chr21:44845927-44845977	PFSK-1	brain:	n/a
40	chr21:44847231-44847281	A549	lung:	n/a
41	chr21:44832350-44832400	SK-N-SH_RA	brain:	n/a
42	chr21:44834701-44834751	HCPEpiC	choroid plexus:	n/a
43	chr21:44840965-44841015	HUVEC	blood vessel:	n/a
44	chr21:44845925-44845975	SKMC	muscle:	n/a
45	chr21:44835697-44835747	HepG2	liver:	n/a
46	chr21:44830921-44830971	NH-A	brain:	n/a
47	chr21:44827167-44827217	HRPEpiC	eye:	n/a
48	chr21:44830477-44830527	SK-N-MC	brain:	n/a
49	chr21:44831062-44831112	GM12892	blood:	n/a
50	chr21:44827167-44827217	HCF	heart:	n/a

(count:143 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:7053051..7053892-chr21:44838844..44839663,2	Hela-S3	cervix:
2	chr21:44829086..44831055-chr21:44919731..44921283,2	MCF-7	breast:
3	chr21:44840105..44840872-chrX:41193417..41194049,2	Hela-S3	cervix:
4	chr21:44838833..44841451-chr21:44904931..44907363,2	MCF-7	breast:
5	chr21:44853858..44855386-chr21:44856765..44859361,2	K562	blood:
6	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
7	chr21:44737976..44738524-chr21:44847133..44847703,2	MCF-7	breast:
8	chr21:44595496..44597017-chr21:44829022..44831353,2	MCF-7	breast:
9	chr13:99738994..99739700-chr21:44835814..44836575,2	Hela-S3	cervix:
10	chr21:44835215..44837939-chr21:44907787..44909882,2	MCF-7	breast:
11	chr21:44844394..44844953-chr9:115512386..115513019,2	Hela-S3	cervix:
12	chr21:44854641..44856916-chr21:44907160..44909918,2	MCF-7	breast:
13	chr21:44855143..44857943-chr21:44904411..44907175,2	MCF-7	breast:
14	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
15	chr14:90849203..90849962-chr21:44837971..44838757,2	Hela-S3	cervix:
16	chr21:44850547..44853679-chr21:44861256..44863290,3	MCF-7	breast:
17	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
18	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
19	chr21:44845919..44846463-chr9:124048978..124049560,2	Hela-S3	cervix:
20	chr21:44749105..44755281-chr21:44829152..44835339,7	MCF-7	breast:
21	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
22	chr21:44825113..44826687-chr21:44829541..44831627,2	K562	blood:
23	chr11:82997053..82997597-chr21:44836794..44837527,2	Hela-S3	cervix:
24	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
25	chr1:28876420..28878928-chr21:44838412..44840928,2	K562	blood:
26	chr21:44837787..44838640-chrX:48900336..48901307,2	Hela-S3	cervix:
27	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
28	chr10:59675342..59676099-chr21:44834961..44835685,2	Hela-S3	cervix:
29	chr21:44852369..44854174-chr21:44865462..44867210,2	K562	blood:
30	chr10:69865425..69865958-chr21:44838150..44838948,2	Hela-S3	cervix:
31	chr21:44762766..44765210-chr21:44829593..44833216,5	MCF-7	breast:
32	chr17:8113190..8113737-chr21:44856899..44857720,2	Hela-S3	cervix:
33	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
34	chr17:81008619..81010955-chr21:44855627..44857871,2	MCF-7	breast:
35	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
36	chr16:3108783..3109454-chr21:44847676..44848561,2	Hela-S3	cervix:
37	chr21:44762797..44764586-chr21:44838192..44840388,2	MCF-7	breast:
38	chr21:44815903..44818451-chr21:44831220..44833651,3	MCF-7	breast:
39	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
40	chr21:44839464..44839982-chr21:44921993..44922584,2	MCF-7	breast:
41	chr21:44815060..44818053-chr21:44827899..44829488,2	MCF-7	breast:
42	chr17:7388016..7388727-chr21:44842203..44843108,2	Hela-S3	cervix:
43	chr21:44850311..44852792-chr21:45138302..45140722,2	MCF-7	breast:
44	chr11:62432218..62432763-chr21:44845331..44846103,2	Hela-S3	cervix:
45	chr21:44833113..44833867-chr6:12008935..12009469,2	Hela-S3	cervix:
46	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
47	chr21:44829762..44832356-chr21:44845414..44847216,3	K562	blood:
48	chr21:44778568..44780302-chr21:44848836..44851138,2	MCF-7	breast:
49	chr15:65588231..65589027-chr21:44846151..44846952,2	Hela-S3	cervix:
50	chr13:99852120..99852994-chr21:44846752..44847396,2	Hela-S3	cervix:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SIK1	hsa-miR-32-5p	chr21:44835766-44835791
2	SIK1	hsa-miR-32-5p	chr21:44834567-44834561
3	SIK1	hsa-miR-32-5p	chr21:44835772-44835765

Variant related genes	Relation type
SIK1	TF binding region
SIK1	CpG island
ENSG00000249915	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000273162	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000178999	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000138347	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000215301	chromatin interactions
ENSG00000120725	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000228889	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000197860	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000068784	chromatin interactions
ENSG00000225637	chromatin interactions
ENSG00000125944	chromatin interactions
ENSG00000123213	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000272173	chromatin interactions
ENSG00000237989	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000137500	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000175711	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000261971	chromatin interactions
ENSG00000068323	chromatin interactions
ENSG00000142178	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000089053	chromatin interactions

Extended variants
information (count: 1827 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1827 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs672163	chr21:44823479-44823480	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536044381	chr21:44823508-44823509	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554740985	chr21:44823509-44823510	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4818726	chr21:44823513-44823514	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533927075	chr21:44823548-44823549	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558953949	chr21:44823571-44823572	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576822217	chr21:44823582-44823583	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544875389	chr21:44823618-44823619	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184792104	chr21:44823622-44823623	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187803653	chr21:44823653-44823654	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375561203	chr21:44823684-44823685	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542456804	chr21:44823700-44823701	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560803544	chr21:44823741-44823742	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528219488	chr21:44823750-44823751	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539846706	chr21:44823780-44823781	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192623927	chr21:44823788-44823789	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531991147	chr21:44823820-44823821	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550417299	chr21:44823831-44823832	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114361715	chr21:44823841-44823842	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529806452	chr21:44823856-44823857	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372259399	chr21:44823862-44823863	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548402004	chr21:44823871-44823872	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369636088	chr21:44823876-44823877	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12483591	chr21:44823877-44823878	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184310779	chr21:44823910-44823911	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558790470	chr21:44823918-44823919	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553455802	chr21:44823927-44823928	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545587171	chr21:44823947-44823948	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9975108	chr21:44823957-44823958	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73380260	chr21:44823968-44823969	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556861307	chr21:44823990-44823991	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs547091239	chr21:44824035-44824036	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs147083441	chr21:44824066-44824067	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs542034706	chr21:44824083-44824084	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs571739183	chr21:44824134-44824135	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554392990	chr21:44824137-44824138	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539149824	chr21:44824147-44824148	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138494144	chr21:44824148-44824149	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144051652	chr21:44824152-44824153	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564641300	chr21:44824180-44824181	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs11702180	chr21:44824192-44824193	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376516404	chr21:44824203-44824204	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144397456	chr21:44824232-44824233	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7282901	chr21:44824263-44824264	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115178427	chr21:44824295-44824296	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115631411	chr21:44824360-44824361	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527494184	chr21:44824361-44824362	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559171519	chr21:44824370-44824371	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs55855720	chr21:44824377-44824378	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572681004	chr21:44824386-44824387	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	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:1803 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44817600-44823600	Enhancers	HepG2	liver
3	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:44818000-44823600	Weak transcription	Fetal Intestine Large	intestine
5	chr21:44819400-44824200	Enhancers	Primary B cells from cord blood	blood
6	chr21:44820000-44823600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr21:44820200-44824200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:44820400-44824800	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:44821200-44829000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:44821200-44829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:44821600-44823800	Weak transcription	HSMM	muscle
12	chr21:44821600-44835400	Weak transcription	Fetal Brain Female	brain
13	chr21:44821800-44823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:44821800-44823800	Weak transcription	HSMMtube	muscle
15	chr21:44821800-44824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:44821800-44831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:44822000-44824600	Bivalent Enhancer	Placenta	Placenta
18	chr21:44822000-44830000	Weak transcription	A549	lung
19	chr21:44822200-44823600	Weak transcription	Fetal Intestine Small	intestine
20	chr21:44822200-44823800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr21:44822200-44828600	Weak transcription	GM12878-XiMat	blood
22	chr21:44822200-44829200	Weak transcription	Thymus	Thymus
23	chr21:44822400-44823800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr21:44822400-44824000	Enhancers	Fetal Muscle Trunk	muscle
25	chr21:44822400-44829000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:44822600-44824600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:44822600-44825800	Weak transcription	Right Ventricle	heart
28	chr21:44822800-44824400	Weak transcription	Spleen	Spleen
29	chr21:44822800-44824600	Weak transcription	Fetal Thymus	thymus
30	chr21:44823000-44824000	Enhancers	Brain Germinal Matrix	brain
31	chr21:44823000-44824400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:44823000-44825000	Enhancers	Liver	Liver
33	chr21:44823000-44825000	Enhancers	Esophagus	oesophagus
34	chr21:44823000-44828800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr21:44823200-44823600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr21:44823200-44824200	Enhancers	Pancreas	Pancrea
37	chr21:44823200-44824800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:44823200-44824800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:44823200-44829200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:44823400-44824000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr21:44823400-44824600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:44823400-44824600	Enhancers	Duodenum Mucosa	Duodenum
43	chr21:44823400-44824600	Enhancers	Psoas Muscle	Psoas
44	chr21:44823600-44824000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr21:44823600-44824400	Enhancers	Fetal Intestine Large	intestine
46	chr21:44823600-44824400	Flanking Active TSS	HepG2	liver
47	chr21:44823600-44824600	Enhancers	Fetal Intestine Small	intestine
48	chr21:44823600-44825600	Enhancers	Fetal Muscle Leg	muscle
49	chr21:44823800-44824000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:44823800-44824000	Enhancers	Primary T helper cells fromperipheralblood	blood

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