Variant report

Variant	nsv913889
Chromosome Location	chr21:45361044-45414119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1225)
CpG islands
(count:1771)
Chromatin interactive
region (count:154)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45377401-45378674	GM12878	blood:	n/a	n/a
2	ATF2	chr21:45377328-45379353	GM12878	blood:	n/a	n/a
3	ATF2	chr21:45381276-45381691	GM12878	blood:	n/a	n/a
4	ATF2	chr21:45395285-45395721	GM12878	blood:	n/a	n/a
5	BACH1	chr21:45394922-45395666	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr21:45378215-45378758	GM12878	blood:	n/a	n/a
7	BCL11A	chr21:45378019-45378899	GM12878	blood:	n/a	n/a
8	BCL11A	chr21:45377492-45377939	GM12878	blood:	n/a	n/a
9	BCL3	chr21:45404718-45406371	GM12878	blood:	n/a	n/a
10	BCL3	chr21:45364964-45365329	GM12878	blood:	n/a	n/a
11	BCL3	chr21:45378202-45379385	GM12878	blood:	n/a	n/a
12	BCL3	chr21:45381040-45381874	GM12878	blood:	n/a	n/a
13	BCL3	chr21:45377223-45379384	GM12878	blood:	n/a	n/a
14	BCL3	chr21:45406754-45407004	GM12878	blood:	n/a	n/a
15	BCL3	chr21:45381019-45381770	GM12878	blood:	n/a	n/a
16	BCL3	chr21:45365039-45365367	GM12878	blood:	n/a	n/a
17	BCL3	chr21:45394092-45394782	GM12878	blood:	n/a	n/a
18	BCL3	chr21:45377372-45377987	GM12878	blood:	n/a	n/a
19	BCLAF1	chr21:45377397-45378784	GM12878	blood:	n/a	n/a
20	BCLAF1	chr21:45378026-45378997	GM12878	blood:	n/a	n/a
21	BCLAF1	chr21:45404897-45405261	GM12878	blood:	n/a	n/a
22	BHLHE40	chr21:45411332-45411675	HepG2	liver:	n/a	chr21:45411494-45411503 chr21:45411493-45411502 chr21:45411493-45411502
23	BHLHE40	chr21:45408775-45409055	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:45393130-45393333	K562	blood:	n/a	n/a
25	BHLHE40	chr21:45405294-45405657	K562	blood:	n/a	n/a
26	BHLHE40	chr21:45377518-45379536	GM12878	blood:	n/a	n/a
27	BHLHE40	chr21:45408749-45408988	K562	blood:	n/a	n/a
28	BHLHE40	chr21:45405330-45405642	HepG2	liver:	n/a	n/a
29	BHLHE40	chr21:45411251-45411626	K562	blood:	n/a	chr21:45411494-45411503 chr21:45411493-45411502 chr21:45411493-45411502
30	BHLHE40	chr21:45394909-45395685	K562	blood:	n/a	n/a
31	BHLHE40	chr21:45405353-45405622	GM12878	blood:	n/a	n/a
32	BHLHE40	chr21:45395154-45395643	GM12878	blood:	n/a	n/a
33	BHLHE40	chr21:45379010-45379146	HepG2	liver:	n/a	n/a
34	BRCA1	chr21:45390473-45390484	HepG2	liver:	n/a	n/a
35	BRCA1	chr21:45395518-45395718	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr21:45395415-45395663	HepG2	liver:	n/a	n/a
37	BRCA1	chr21:45378314-45379424	GM12878	blood:	n/a	n/a
38	BRCA1	chr21:45395569-45395826	GM12878	blood:	n/a	n/a
39	CBX3	chr21:45383537-45383782	K562	blood:	n/a	n/a
40	CBX3	chr21:45383470-45383853	K562	blood:	n/a	n/a
41	CCNT2	chr21:45395245-45395586	K562	blood:	n/a	n/a
42	CCNT2	chr21:45405642-45405721	K562	blood:	n/a	n/a
43	CCNT2	chr21:45404810-45405025	K562	blood:	n/a	n/a
44	CCNT2	chr21:45391922-45391974	K562	blood:	n/a	n/a
45	CCNT2	chr21:45402455-45402540	K562	blood:	n/a	n/a
46	CEBPB	chr21:45361677-45361833	IMR90	lung:	n/a	n/a
47	CEBPB	chr21:45391265-45391339	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr21:45391279-45391317	K562	blood:	n/a	n/a
49	CEBPB	chr21:45395246-45395517	IMR90	lung:	n/a	n/a
50	CEBPB	chr21:45379071-45379082	A549	lung:	n/a	n/a

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45363474-45363524	Hela-S3	cervix:	n/a
2	chr21:45402485-45402535	MCF10A-Er-Src	breast:	n/a
3	chr21:45363474-45363524	Hela-S3	cervix:	n/a
4	chr21:45402485-45402535	MCF10A-Er-Src	breast:	n/a
5	chr21:45363775-45363825	HEK293	kidney:	embryo
6	chr21:45381306-45381356	Hepatocyte	liver:	n/a
7	chr21:45399400-45399450	PFSK-1	brain:	n/a
8	chr21:45361964-45362014	HPAEpiC	pulmonary alveolar:	n/a
9	chr21:45381306-45381356	ovcar-3	ovarian:	n/a
10	chr21:45392465-45392515	CMK	blood:	n/a
11	chr21:45377217-45377267	AG04449	skin:	fetal
12	chr21:45394810-45394860	AG04449	skin:	fetal
13	chr21:45363474-45363524	SAEC	small airway:	n/a
14	chr21:45402728-45402778	GM19239	blood:	n/a
15	chr21:45399400-45399450	Jurkat	blood:	n/a
16	chr21:45392465-45392515	HNPCEpiC	eye:	n/a
17	chr21:45394810-45394860	NHDF-neo	bronchial:	n/a
18	chr21:45393416-45393466	HAEpiC	amniotic membrane:	n/a
19	chr21:45402527-45402577	Caco-2	colon:	n/a
20	chr21:45399400-45399450	PrEC	prostate:	n/a
21	chr21:45363474-45363524	AG04449	skin:	fetal
22	chr21:45379721-45379771	HAEpiC	amniotic membrane:	n/a
23	chr21:45393592-45393642	PFSK-1	brain:	n/a
24	chr21:45379546-45379596	GM12878	blood:	n/a
25	chr21:45363474-45363524	K562	blood:	n/a
26	chr21:45402527-45402577	SK-N-SH	brain:	n/a
27	chr21:45393393-45393443	H1-hESC	embryonic stem cell:	embryo
28	chr21:45379489-45379539	RPTEC	kidney:	n/a
29	chr21:45392465-45392515	Hela-S3	cervix:	n/a
30	chr21:45393416-45393466	NB4	blood:	n/a
31	chr21:45405724-45405774	HRE	kidney:	n/a
32	chr21:45392465-45392515	A549	lung:	n/a
33	chr21:45382788-45382838	GM19239	blood:	n/a
34	chr21:45392465-45392515	Hepatocyte	liver:	n/a
35	chr21:45379652-45379702	AG09319	gingival:	n/a
36	chr21:45392465-45392515	HCPEpiC	choroid plexus:	n/a
37	chr21:45402464-45402514	HAEpiC	amniotic membrane:	n/a
38	chr21:45403468-45403518	HRCEpiC	kidney:	n/a
39	chr21:45395775-45395825	HNPCEpiC	eye:	n/a
40	chr21:45367182-45367232	HRE	kidney:	n/a
41	chr21:45402485-45402535	Hepatocyte	liver:	n/a
42	chr21:45379546-45379596	HCPEpiC	choroid plexus:	n/a
43	chr21:45393541-45393591	HCM	heart:	n/a
44	chr21:45392465-45392515	BJ	skin:	n/a
45	chr21:45379652-45379702	GM19239	blood:	n/a
46	chr21:45382788-45382838	ovcar-3	ovarian:	n/a
47	chr21:45393541-45393591	HUVEC	blood vessel:	n/a
48	chr21:45402683-45402733	RPTEC	kidney:	n/a
49	chr21:45402527-45402577	PrEC	prostate:	n/a
50	chr21:45393541-45393591	NT2-D1	testis:	n/a

(count:154 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
2	chr21:45355633..45358053-chr21:45363187..45364790,2	K562	blood:
3	chr21:45279077..45280867-chr21:45358882..45361761,2	K562	blood:
4	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
5	chr21:45391227..45394196-chr21:45402468..45407272,4	K562	blood:
6	chr21:45411686..45414596-chr21:45429639..45431651,4	K562	blood:
7	chr21:45285861..45287868-chr21:45358752..45361142,2	K562	blood:
8	chr21:45413723..45415813-chr21:45464864..45467470,2	K562	blood:
9	chr21:45386012..45388707-chr21:45392125..45394514,2	K562	blood:
10	chr21:45391777..45394630-chr21:45405827..45408777,2	K562	blood:
11	chr21:45365594..45366129-chr21:45395439..45396237,2	MCF-7	breast:
12	chr21:45281403..45288287-chr21:45354667..45363125,18	K562	blood:
13	chr21:45224259..45226376-chr21:45393066..45395792,2	K562	blood:
14	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:
15	chr21:45358695..45359504-chr21:45376371..45377288,2	MCF-7	breast:
16	chr21:45397719..45400643-chr21:45719972..45722043,2	MCF-7	breast:
17	chr21:45386012..45388707-chr21:45392125..45394514,2	K562	blood:
18	chr21:45403511..45408258-chr21:45429516..45434550,7	MCF-7	breast:
19	chr21:45386923..45389189-chr21:45394639..45396449,2	K562	blood:
20	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
21	chr21:45230337..45232483-chr21:45365596..45368025,2	K562	blood:
22	chr21:45366021..45369525-chr21:45388691..45391384,4	K562	blood:
23	chr21:45370723..45373935-chr21:45374637..45377762,3	K562	blood:
24	chr21:45386763..45388915-chr21:45390117..45393587,3	MCF-7	breast:
25	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
26	chr21:45392942..45395258-chr21:45429589..45432675,3	K562	blood:
27	chr21:45406297..45409169-chr21:45425918..45428099,2	K562	blood:
28	chr21:45400381..45403322-chr21:45403855..45406530,2	K562	blood:
29	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
30	chr21:45412059..45414701-chr21:45426081..45427962,2	MCF-7	breast:
31	chr21:45228242..45230563-chr21:45391322..45393859,2	MCF-7	breast:
32	chr21:45405792..45407714-chr21:45431935..45434598,2	MCF-7	breast:
33	chr21:45375996..45377603-chr21:45380866..45383184,2	MCF-7	breast:
34	chr21:45208219..45210137-chr21:45395159..45396990,2	K562	blood:
35	chr21:45407518..45410638-chr21:45429603..45433630,5	K562	blood:
36	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
37	chr21:45223833..45232004-chr21:45356708..45361221,12	K562	blood:
38	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
39	chr21:45354193..45356078-chr21:45363330..45365754,2	MCF-7	breast:
40	chr21:45395550..45398275-chr21:45399563..45401306,2	K562	blood:
41	chr21:45202840..45204632-chr21:45374678..45376519,2	K562	blood:
42	chr21:45389343..45390928-chr21:45392630..45394554,2	K562	blood:
43	chr21:45229167..45230861-chr21:45380337..45383260,2	K562	blood:
44	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
45	chr21:45371594..45373421-chr21:45394016..45396478,2	K562	blood:
46	chr21:45194764..45197470-chr21:45392399..45395050,2	MCF-7	breast:
47	chr21:45225840..45228634-chr21:45360679..45363193,2	K562	blood:
48	chr21:45394026..45396838-chr21:45529562..45532299,2	K562	blood:
49	chr21:45284903..45287648-chr21:45375062..45376826,2	MCF-7	breast:
50	chr21:45358391..45361361-chr21:45366953..45369647,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAPPC10-3	chr21:45368035-45368223	NONHSAT082465
2	lnc-TRAPPC10-3	chr21:45374431-45374983	NONHSAT082465
3	lnc-TRAPPC10-3	chr21:45366891-45366939	NONHSAT082465

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AGPAT3	hsa-miR-26b-5p	chr21:45406388-45406409
2	AGPAT3	hsa-miR-24-3p	chr21:45402406-45402412

Variant related genes	Relation type
AGPAT3	TF binding region
AGPAT3	CpG island
ENSG00000141959	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000252606	chromatin interactions
ENSG00000234030	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000159208	chromatin interactions
ENSG00000213440	chromatin interactions

Extended variants
information (count: 2569 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819351	chr21:45361044-45361045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9975576	chr21:45361067-45361068	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4819352	chr21:45361095-45361096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs189105368	chr21:45361099-45361100	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138090092	chr21:45361116-45361117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537480653	chr21:45361200-45361201	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560156536	chr21:45361212-45361213	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181869720	chr21:45361258-45361259	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567754253	chr21:45361272-45361273	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535268640	chr21:45361279-45361280	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553951156	chr21:45361320-45361321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572183243	chr21:45361325-45361326	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141824152	chr21:45361327-45361328	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557677728	chr21:45361343-45361344	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575623776	chr21:45361384-45361385	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543023989	chr21:45361396-45361397	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186376776	chr21:45361422-45361423	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3788083	chr21:45361501-45361502	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540802949	chr21:45361510-45361511	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559875430	chr21:45361515-45361516	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533404297	chr21:45361522-45361523	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189646028	chr21:45361550-45361551	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567071282	chr21:45361631-45361632	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372538858	chr21:45361652-45361653	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368509106	chr21:45361654-45361655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563978612	chr21:45361659-45361660	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147110985	chr21:45361663-45361664	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138591990	chr21:45361672-45361673	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548917466	chr21:45361687-45361688	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76167757	chr21:45361732-45361733	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374586984	chr21:45361743-45361744	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535104547	chr21:45361757-45361758	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534368028	chr21:45361779-45361780	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546810098	chr21:45361796-45361797	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565865361	chr21:45361819-45361820	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555690577	chr21:45361832-45361833	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs142691354	chr21:45361840-45361841	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs73906676	chr21:45361870-45361871	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs73906677	chr21:45361975-45361976	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368911320	chr21:45361989-45361990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs573584191	chr21:45361990-45361991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs541117301	chr21:45361997-45361998	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs147994784	chr21:45361998-45361999	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs35191572	chr21:45362028-45362029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs578185421	chr21:45362075-45362076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545619449	chr21:45362108-45362109	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs563945725	chr21:45362109-45362110	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs180714300	chr21:45362114-45362115	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs80082143	chr21:45362176-45362177	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141693555	chr21:45362186-45362187	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	19805367	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1881 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45348400-45363800	Weak transcription	Aorta	Aorta
4	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
7	chr21:45359000-45361800	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45359000-45363800	Weak transcription	Fetal Lung	lung
9	chr21:45359000-45364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45359000-45364000	Weak transcription	Brain Substantia Nigra	brain
11	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
12	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
14	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
15	chr21:45359200-45361200	Enhancers	Duodenum Mucosa	Duodenum
16	chr21:45359200-45361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:45359200-45361600	Enhancers	Fetal Intestine Large	intestine
18	chr21:45359200-45361800	Genic enhancers	Fetal Intestine Small	intestine
19	chr21:45359200-45364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:45359200-45364600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:45359200-45366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:45359200-45366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:45359200-45368000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:45359200-45368000	Strong transcription	Fetal Stomach	stomach
25	chr21:45359200-45368400	Weak transcription	HSMM	muscle
26	chr21:45359200-45368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
28	chr21:45359200-45378800	Weak transcription	NHEK	skin
29	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr21:45359400-45361200	Enhancers	Brain Hippocampus Middle	brain
31	chr21:45359400-45361400	Weak transcription	Osteobl	bone
32	chr21:45359400-45363400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:45359400-45363600	Weak transcription	Fetal Heart	heart
34	chr21:45359400-45363800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:45359400-45364000	Weak transcription	Placenta	Placenta
36	chr21:45359400-45364000	Weak transcription	Fetal Thymus	thymus
37	chr21:45359400-45364000	Weak transcription	Left Ventricle	heart
38	chr21:45359400-45368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:45359400-45369800	Weak transcription	Right Atrium	heart
40	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
41	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
42	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr21:45359600-45362200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr21:45359600-45362400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr21:45359600-45362400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:45359600-45362400	Strong transcription	Esophagus	oesophagus
48	chr21:45359600-45362800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr21:45359600-45362800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:45359600-45362800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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