Variant report

Variant	nsv913963
Chromosome Location	chr21:46223847-46277968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2043)
CpG islands
(count:1344)
Chromatin interactive
region (count:194)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2043 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46274356-46275165	K562	blood:	n/a	n/a
2	ARID3A	chr21:46224094-46224095	K562	blood:	n/a	n/a
3	ARID3A	chr21:46237929-46238223	K562	blood:	n/a	chr21:46237956-46237971
4	ATF1	chr21:46253613-46254117	K562	blood:	n/a	n/a
5	ATF1	chr21:46274288-46275392	K562	blood:	n/a	n/a
6	ATF3	chr21:46237832-46238249	GM12878	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
7	ATF3	chr21:46237844-46238162	HepG2	liver:	n/a	chr21:46238023-46238043 chr21:46238113-46238127
8	ATF3	chr21:46237913-46238122	H1-hESC	embryonic stem cell:	n/a	chr21:46238023-46238043
9	ATF3	chr21:46237862-46238262	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
10	ATF3	chr21:46237878-46238210	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
11	ATF3	chr21:46256363-46256768	K562	blood:	n/a	n/a
12	ATF3	chr21:46237857-46238292	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
13	ATF3	chr21:46237954-46238121	GM12878	blood:	n/a	chr21:46238023-46238043
14	ATF3	chr21:46274661-46275231	K562	blood:	n/a	n/a
15	BACH1	chr21:46237425-46237653	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr21:46238089-46238283	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr21:46265955-46266148	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr21:46274762-46275095	K562	blood:	n/a	n/a
19	BACH1	chr21:46239525-46239595	K562	blood:	n/a	n/a
20	BCL3	chr21:46230706-46231261	GM12878	blood:	n/a	n/a
21	BCL3	chr21:46230747-46231155	GM12878	blood:	n/a	n/a
22	BCL3	chr21:46270884-46271087	GM12878	blood:	n/a	n/a
23	BHLHE40	chr21:46266301-46267149	HepG2	liver:	n/a	n/a
24	BHLHE40	chr21:46273626-46275322	K562	blood:	n/a	chr21:46274018-46274034
25	BHLHE40	chr21:46256510-46257043	HepG2	liver:	n/a	n/a
26	BHLHE40	chr21:46252912-46253009	K562	blood:	n/a	n/a
27	BHLHE40	chr21:46272933-46273140	K562	blood:	n/a	n/a
28	BHLHE40	chr21:46254985-46255541	K562	blood:	n/a	n/a
29	BHLHE40	chr21:46237847-46238225	HepG2	liver:	n/a	n/a
30	BHLHE40	chr21:46251299-46251379	K562	blood:	n/a	n/a
31	BHLHE40	chr21:46237584-46238536	GM12878	blood:	n/a	n/a
32	BHLHE40	chr21:46266246-46266644	GM12878	blood:	n/a	n/a
33	BHLHE40	chr21:46256451-46256985	K562	blood:	n/a	n/a
34	BHLHE40	chr21:46261075-46261124	HepG2	liver:	n/a	n/a
35	BHLHE40	chr21:46265747-46266993	K562	blood:	n/a	n/a
36	BHLHE40	chr21:46237450-46238411	K562	blood:	n/a	chr21:46237551-46237567
37	BRCA1	chr21:46265775-46265895	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr21:46242376-46243423	K562	blood:	n/a	n/a
39	CBX3	chr21:46242403-46243402	K562	blood:	n/a	n/a
40	CBX3	chr21:46237349-46237662	K562	blood:	n/a	n/a
41	CBX3	chr21:46242702-46243200	HCT-116	colon:	n/a	n/a
42	CBX3	chr21:46239394-46239806	K562	blood:	n/a	n/a
43	CBX3	chr21:46248258-46248998	HCT-116	colon:	n/a	n/a
44	CBX3	chr21:46274530-46275223	K562	blood:	n/a	n/a
45	CBX3	chr21:46265763-46266560	K562	blood:	n/a	n/a
46	CBX3	chr21:46248258-46249069	K562	blood:	n/a	n/a
47	CBX3	chr21:46239328-46239685	K562	blood:	n/a	n/a
48	CBX3	chr21:46242835-46243189	HCT-116	colon:	n/a	n/a
49	CBX3	chr21:46248302-46249008	K562	blood:	n/a	n/a
50	CBX3	chr21:46238324-46238693	K562	blood:	n/a	n/a

(count:1344 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46237117-46237167	HEK293	kidney:	embryo
2	chr21:46238210-46238260	NH-A	brain:	n/a
3	chr21:46237117-46237167	HEK293	kidney:	embryo
4	chr21:46238210-46238260	NH-A	brain:	n/a
5	chr21:46237117-46237167	SK-N-SH	brain:	n/a
6	chr21:46225890-46225940	AG10803	skin:	n/a
7	chr21:46268755-46268805	HCT-116	colon:	n/a
8	chr21:46237117-46237167	NH-A	brain:	n/a
9	chr21:46269191-46269241	Hela-S3	cervix:	n/a
10	chr21:46232829-46232879	SK-N-MC	brain:	n/a
11	chr21:46239952-46240002	AG04449	skin:	fetal
12	chr21:46269126-46269176	ProgFib	skin:	n/a
13	chr21:46269126-46269176	HPAEpiC	pulmonary alveolar:	n/a
14	chr21:46238804-46238854	PFSK-1	brain:	n/a
15	chr21:46236351-46236401	HAEpiC	amniotic membrane:	n/a
16	chr21:46235052-46235102	K562	blood:	n/a
17	chr21:46238804-46238854	MCF-7	breast:	n/a
18	chr21:46238804-46238854	HRE	kidney:	n/a
19	chr21:46237743-46237793	PANC-1	pancreas:	n/a
20	chr21:46237743-46237793	HL-60	blood:	n/a
21	chr21:46269016-46269066	MCF10A-Er-Src	breast:	n/a
22	chr21:46237117-46237167	CMK	blood:	n/a
23	chr21:46237117-46237167	AG10803	skin:	n/a
24	chr21:46237117-46237167	Hepatocyte	liver:	n/a
25	chr21:46241005-46241055	AG10803	skin:	n/a
26	chr21:46241005-46241055	U87	brain:	n/a
27	chr21:46269016-46269066	SK-N-SH	brain:	n/a
28	chr21:46239952-46240002	SAEC	small airway:	n/a
29	chr21:46236351-46236401	CMK	blood:	n/a
30	chr21:46269126-46269176	AG09319	gingival:	n/a
31	chr21:46267096-46267146	GM12891	blood:	n/a
32	chr21:46238804-46238854	SK-N-SH	brain:	n/a
33	chr21:46269126-46269176	SK-N-MC	brain:	n/a
34	chr21:46271020-46271070	Hepatocyte	liver:	n/a
35	chr21:46237117-46237167	HCF	heart:	n/a
36	chr21:46238957-46239007	NB4	blood:	n/a
37	chr21:46269016-46269066	HNPCEpiC	eye:	n/a
38	chr21:46239952-46240002	GM06990	blood:	n/a
39	chr21:46269191-46269241	HRCEpiC	kidney:	n/a
40	chr21:46238210-46238260	NHDF-neo	bronchial:	n/a
41	chr21:46239952-46240002	Jurkat	blood:	n/a
42	chr21:46238957-46239007	AG04449	skin:	fetal
43	chr21:46237385-46237435	HRPEpiC	eye:	n/a
44	chr21:46232829-46232879	GM12892	blood:	n/a
45	chr21:46238804-46238854	PrEC	prostate:	n/a
46	chr21:46269016-46269066	GM19239	blood:	n/a
47	chr21:46271421-46271471	A549	lung:	n/a
48	chr21:46266030-46266080	HMEC	breast:	n/a
49	chr21:46267096-46267146	GM06990	blood:	n/a
50	chr21:46271020-46271070	GM12878	blood:	n/a

(count:194 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46236105..46239351-chr21:46263407..46266107,3	MCF-7	breast:
2	chr21:46233076..46235326-chr21:46293687..46295542,2	K562	blood:
3	chr21:46235731..46237391-chr21:46308953..46310486,2	K562	blood:
4	chr21:46253493..46258173-chr21:46289318..46293722,5	K562	blood:
5	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
6	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
7	chr21:46275534..46278404-chr21:46290739..46294827,5	MCF-7	breast:
8	chr21:46244628..46247469-chr21:46269469..46271474,2	MCF-7	breast:
9	chr14:70233478..70234112-chr21:46237606..46238371,2	Hela-S3	cervix:
10	chr21:46230539..46232494-chr21:46352107..46354258,2	K562	blood:
11	chr21:46247527..46250917-chr21:46254935..46257168,7	K562	blood:
12	chr21:46238172..46240580-chr21:46333314..46335686,2	K562	blood:
13	chr21:46256405..46259532-chr21:46270974..46273137,3	K562	blood:
14	chr21:46235125..46235625-chr7:5466049..5466804,3	HCT-116	colon:
15	chr21:46235858..46241119-chr21:46254955..46260994,15	MCF-7	breast:
16	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
17	chr21:46236115..46238070-chr21:46276155..46279056,5	MCF-7	breast:
18	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
19	chr21:46256640..46259099-chr21:46259319..46260934,2	MCF-7	breast:
20	chr21:46273736..46276118-chr21:46318911..46321245,2	K562	blood:
21	chr21:46240414..46242423-chr21:46276915..46278463,2	MCF-7	breast:
22	chr21:46254101..46256676-chr21:46273312..46275198,2	K562	blood:
23	chr21:46223417..46225728-chr21:46304439..46306955,2	K562	blood:
24	chr21:46219617..46224872-chr21:46254277..46260376,11	MCF-7	breast:
25	chr21:46266013..46268902-chr21:46273662..46275301,2	MCF-7	breast:
26	chr21:46242212..46244656-chr21:46247081..46249284,2	MCF-7	breast:
27	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
28	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
29	chr17:56708400..56710403-chr21:46274610..46277048,2	MCF-7	breast:
30	chr21:46264845..46266495-chr21:46291044..46293226,2	MCF-7	breast:
31	chr21:46275572..46279404-chr21:46280486..46283691,4	MCF-7	breast:
32	chr21:46225527..46227783-chr21:46359339..46361331,2	MCF-7	breast:
33	chr21:46264887..46267295-chr21:46268362..46270043,2	K562	blood:
34	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
35	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
36	chr21:46240542..46242357-chr21:46244714..46247520,2	MCF-7	breast:
37	chr21:46248252..46250861-chr21:46291780..46294767,2	K562	blood:
38	chr21:46231737..46233290-chr21:46275941..46278575,2	K562	blood:
39	chr21:46263030..46264697-chr21:46282813..46284320,2	MCF-7	breast:
40	chr21:46265879..46266847-chr3:73160121..73160624,2	NB4	blood:
41	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
42	chr21:46264289..46271339-chr21:46271625..46276632,16	K562	blood:
43	chr21:46251390..46253275-chr21:46253661..46255396,2	MCF-7	breast:
44	chr21:46265002..46266574-chr21:46269754..46272322,2	MCF-7	breast:
45	chr21:46247527..46251136-chr21:46253947..46257899,9	K562	blood:
46	chr21:46257986..46260009-chr21:46368345..46370493,2	MCF-7	breast:
47	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
48	chr21:46247392..46250185-chr21:46286804..46289409,3	MCF-7	breast:
49	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
50	chr21:46236130..46239998-chr21:46264824..46268393,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRTAP10-12-1	chr21:46223662-46224012	XLOC_013973
2	lnc-KRTAP10-12-1	chr21:46223662-46224632	XLOC_013973
3	lnc-FAM207A-8	chr21:46269504-46270003	NONHSAT082883

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTTG1IP	hsa-miR-124-3p	chr21:46269557-46269550
2	PTTG1IP	hsa-miR-124-3p	chr21:46269551-46269570

Variant related genes	Relation type
UBE2G2	TF binding region
SUMO3	TF binding region
UBE2G2	CpG island
SUMO3	CpG island
ENSG00000184787	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000142546	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000160877	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000104907	chromatin interactions
ENSG00000007866	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000227039	chromatin interactions
MORC3	miRNA target sites

Extended variants
information (count: 2622 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2622 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145884234	chr21:46223862-46223863	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs564536529	chr21:46223892-46223893	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs531889432	chr21:46223942-46223943	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs741948	chr21:46223965-46223966	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs116650450	chr21:46223985-46223986	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs562201891	chr21:46224028-46224029	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs17004492	chr21:46224029-46224030	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555176366	chr21:46224037-46224038	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs182866587	chr21:46224056-46224057	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs9977684	chr21:46224070-46224071	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs188384312	chr21:46224072-46224073	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs73232961	chr21:46224097-46224098	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs149922253	chr21:46224098-46224099	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs570556466	chr21:46224183-46224184	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs111979082	chr21:46224211-46224212	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs143051957	chr21:46224217-46224218	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs372341228	chr21:46224223-46224224	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs555925923	chr21:46224231-46224232	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs574222246	chr21:46224232-46224233	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
20	rs535150795	chr21:46224278-46224279	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs9980203	chr21:46224295-46224296	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571968599	chr21:46224301-46224302	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs546185398	chr21:46224321-46224322	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs4431026	chr21:46224359-46224360	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576653654	chr21:46224366-46224367	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs537126204	chr21:46224417-46224418	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs9977480	chr21:46224456-46224457	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374917649	chr21:46224459-46224460	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs529426438	chr21:46224460-46224461	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs74961226	chr21:46224478-46224479	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs527298272	chr21:46224487-46224488	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs559496954	chr21:46224493-46224494	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs533311101	chr21:46224499-46224500	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs111306827	chr21:46224540-46224541	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs113614389	chr21:46224550-46224551	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs369125118	chr21:46224554-46224555	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs192877457	chr21:46224625-46224626	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs570759782	chr21:46224629-46224630	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs369339435	chr21:46224653-46224654	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs573699372	chr21:46224675-46224676	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs549587545	chr21:46224716-46224717	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs375373033	chr21:46224758-46224759	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs540992079	chr21:46224773-46224774	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567880326	chr21:46224783-46224784	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs183186483	chr21:46224872-46224873	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs553786452	chr21:46224878-46224879	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs17289745	chr21:46224879-46224880	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs572604058	chr21:46224882-46224883	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs539461785	chr21:46224941-46224942	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs557451798	chr21:46224953-46224954	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lymphoma	21487021	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2133 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46224600	Weak transcription	Brain Angular Gyrus	brain
3	chr21:46222600-46224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:46222600-46224800	Weak transcription	Aorta	Aorta
5	chr21:46222600-46224800	Weak transcription	Left Ventricle	heart
6	chr21:46222600-46224800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:46222600-46225000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:46222600-46226200	Weak transcription	Esophagus	oesophagus
9	chr21:46222600-46226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
11	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
12	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr21:46222800-46224000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr21:46222800-46224200	Weak transcription	Primary T cells from cord blood	blood
15	chr21:46222800-46224200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr21:46222800-46224600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:46222800-46224800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr21:46222800-46224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:46222800-46224800	Weak transcription	Brain Substantia Nigra	brain
20	chr21:46222800-46224800	Weak transcription	Fetal Brain Female	brain
21	chr21:46222800-46224800	Weak transcription	Ovary	ovary
22	chr21:46222800-46224800	Weak transcription	Pancreas	Pancrea
23	chr21:46222800-46224800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr21:46222800-46224800	Weak transcription	Thymus	Thymus
25	chr21:46222800-46224800	Weak transcription	NHDF-Ad	bronchial
26	chr21:46222800-46225000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr21:46222800-46225000	Weak transcription	Brain Hippocampus Middle	brain
28	chr21:46222800-46225200	Weak transcription	Fetal Brain Male	brain
29	chr21:46222800-46225200	Weak transcription	Fetal Kidney	kidney
30	chr21:46222800-46225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr21:46222800-46226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46222800-46226400	Weak transcription	Gastric	stomach
33	chr21:46222800-46226600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:46223000-46224000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:46223000-46224000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:46223000-46224400	Weak transcription	Primary B cells from cord blood	blood
39	chr21:46223000-46224400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr21:46223000-46224400	Weak transcription	Liver	Liver
41	chr21:46223000-46224400	Weak transcription	Brain Anterior Caudate	brain
42	chr21:46223000-46224600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr21:46223000-46224600	Weak transcription	Adipose Nuclei	Adipose
44	chr21:46223000-46224600	Weak transcription	GM12878-XiMat	blood
45	chr21:46223000-46224800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr21:46223000-46224800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr21:46223000-46224800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:46223000-46224800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr21:46223000-46224800	Weak transcription	Brain Germinal Matrix	brain
50	chr21:46223000-46224800	Weak transcription	Colonic Mucosa	Colon

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