Variant report

Variant	esv3345023
Chromosome Location	chr21:46236474-46239372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:606)
CpG islands
(count:488)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46237929-46238223	K562	blood:	n/a	chr21:46237956-46237971
2	ATF3	chr21:46237878-46238210	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
3	ATF3	chr21:46237954-46238121	GM12878	blood:	n/a	chr21:46238023-46238043
4	ATF3	chr21:46237913-46238122	H1-hESC	embryonic stem cell:	n/a	chr21:46238023-46238043
5	ATF3	chr21:46237862-46238262	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
6	ATF3	chr21:46237844-46238162	HepG2	liver:	n/a	chr21:46238023-46238043 chr21:46238113-46238127
7	ATF3	chr21:46237832-46238249	GM12878	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
8	ATF3	chr21:46237857-46238292	K562	blood:	n/a	chr21:46238179-46238188 chr21:46238023-46238043 chr21:46238113-46238127
9	BACH1	chr21:46238089-46238283	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr21:46237425-46237653	H1-hESC	embryonic stem cell:	n/a	n/a
11	BHLHE40	chr21:46237584-46238536	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:46237847-46238225	HepG2	liver:	n/a	n/a
13	BHLHE40	chr21:46237450-46238411	K562	blood:	n/a	chr21:46237551-46237567
14	CBX3	chr21:46238761-46239209	K562	blood:	n/a	n/a
15	CBX3	chr21:46239328-46239685	K562	blood:	n/a	n/a
16	CBX3	chr21:46238324-46238693	K562	blood:	n/a	n/a
17	CBX3	chr21:46237349-46237662	K562	blood:	n/a	n/a
18	CCNT2	chr21:46237381-46238923	K562	blood:	n/a	n/a
19	CEBPD	chr21:46238043-46238283	HepG2	liver:	n/a	n/a
20	CHD1	chr21:46238387-46238614	GM12878	blood:	n/a	n/a
21	CHD1	chr21:46237385-46237635	GM12878	blood:	n/a	n/a
22	CHD2	chr21:46238002-46238034	HepG2	liver:	n/a	n/a
23	CHD2	chr21:46237316-46238468	GM12878	blood:	n/a	n/a
24	CHD2	chr21:46237343-46237490	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr21:46237485-46238348	K562	blood:	n/a	n/a
26	CHD2	chr21:46237495-46238312	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr21:46237957-46238149	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr21:46237786-46238507	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr21:46237450-46238531	HepG2	liver:	n/a	n/a
30	CREB1	chr21:46237433-46238396	K562	blood:	n/a	n/a
31	CREB1	chr21:46237426-46238375	A549	lung:	n/a	n/a
32	CTCF	chr21:46237560-46237710	GM12874	blood:	n/a	chr21:46237649-46237662
33	CTCF	chr21:46238225-46238694	K562	blood:	n/a	n/a
34	CTCF	chr21:46238160-46238310	GM12866	blood:	n/a	n/a
35	CTCF	chr21:46238399-46238501	MCF-7	breast:	n/a	n/a
36	CTCF	chr21:46238460-46238610	GM12875	blood:	n/a	n/a
37	CTCF	chr21:46238339-46238518	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr21:46238320-46238470	AG04449	skin:	n/a	n/a
39	CTCF	chr21:46238300-46238450	GM12865	blood:	n/a	n/a
40	CTCF	chr21:46237580-46237730	GM12871	blood:	n/a	chr21:46237649-46237662
41	CTCF	chr21:46237652-46237680	MCF-7	breast:	n/a	n/a
42	CTCF	chr21:46237517-46237732	K562	blood:	n/a	chr21:46237649-46237662
43	CTCF	chr21:46238340-46238490	GM12873	blood:	n/a	n/a
44	CTCF	chr21:46237823-46237973	T-47D	breast:	n/a	n/a
45	CTCF	chr21:46238420-46238570	HMEC	breast:	n/a	n/a
46	CTCF	chr21:46238380-46238530	NHEK	skin:	n/a	n/a
47	CTCF	chr21:46238396-46238494	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:46238363-46238530	K562	blood:	n/a	n/a
49	CTCF	chr21:46238320-46238470	HCM	heart:	n/a	n/a
50	CTCF	chr21:46238375-46238500	GM12891	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46237385-46237435	BJ	skin:	n/a
2	chr21:46237456-46237506	SK-N-SH	brain:	n/a
3	chr21:46237385-46237435	HNPCEpiC	eye:	n/a
4	chr21:46237743-46237793	HCF	heart:	n/a
5	chr21:46238957-46239007	Caco-2	colon:	n/a
6	chr21:46237456-46237506	T-47D	breast:	n/a
7	chr21:46238804-46238854	IMR90	lung:	fetal
8	chr21:46238210-46238260	Jurkat	blood:	n/a
9	chr21:46238804-46238854	Hepatocyte	liver:	n/a
10	chr21:46238804-46238854	A549	lung:	n/a
11	chr21:46238781-46238831	K562	blood:	n/a
12	chr21:46238781-46238831	GM12892	blood:	n/a
13	chr21:46238804-46238854	GM06990	blood:	n/a
14	chr21:46238781-46238831	U87	brain:	n/a
15	chr21:46238804-46238854	HCM	heart:	n/a
16	chr21:46237117-46237167	SKMC	muscle:	n/a
17	chr21:46237456-46237506	A549	lung:	n/a
18	chr21:46237385-46237435	MCF-7	breast:	n/a
19	chr21:46237743-46237793	Caco-2	colon:	n/a
20	chr21:46237117-46237167	AG04449	skin:	fetal
21	chr21:46237385-46237435	PFSK-1	brain:	n/a
22	chr21:46237385-46237435	AG09309	skin:	n/a
23	chr21:46238957-46239007	HPAEpiC	pulmonary alveolar:	n/a
24	chr21:46237743-46237793	Jurkat	blood:	n/a
25	chr21:46238957-46239007	IMR90	lung:	fetal
26	chr21:46237385-46237435	AG10803	skin:	n/a
27	chr21:46237743-46237793	HRPEpiC	eye:	n/a
28	chr21:46238957-46239007	GM12891	blood:	n/a
29	chr21:46238210-46238260	AG09319	gingival:	n/a
30	chr21:46238804-46238854	HNPCEpiC	eye:	n/a
31	chr21:46238804-46238854	NB4	blood:	n/a
32	chr21:46237117-46237167	BE2_C	brain:	n/a
33	chr21:46238781-46238831	NT2-D1	testis:	n/a
34	chr21:46237117-46237167	HCM	heart:	n/a
35	chr21:46238781-46238831	HUVEC	blood vessel:	n/a
36	chr21:46237117-46237167	HAEpiC	amniotic membrane:	n/a
37	chr21:46238210-46238260	NHDF-neo	bronchial:	n/a
38	chr21:46238957-46239007	SK-N-SH_RA	brain:	n/a
39	chr21:46238781-46238831	RPTEC	kidney:	n/a
40	chr21:46238210-46238260	HEK293	kidney:	embryo
41	chr21:46237117-46237167	NHDF-neo	bronchial:	n/a
42	chr21:46237456-46237506	NH-A	brain:	n/a
43	chr21:46237456-46237506	HIPEpiC	eye:	n/a
44	chr21:46238210-46238260	T-47D	breast:	n/a
45	chr21:46238804-46238854	AG10803	skin:	n/a
46	chr21:46237456-46237506	SK-N-MC	brain:	n/a
47	chr21:46238210-46238260	MCF10A-Er-Src	breast:	n/a
48	chr21:46237743-46237793	AG09309	skin:	n/a
49	chr21:46237117-46237167	HMEC	breast:	n/a
50	chr21:46237456-46237506	ProgFib	skin:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
2	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
3	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
4	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
5	chr21:46236119..46237973-chr6:33239831..33242378,2	K562	blood:
6	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
7	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
8	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
9	chr21:46235456..46237269-chr21:46361591..46363708,2	K562	blood:
10	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:
11	chr1:45285250..45286056-chr21:46238038..46238888,2	Hela-S3	cervix:
12	chr21:46238172..46240580-chr21:46333314..46335686,2	K562	blood:
13	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
14	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
15	chr21:46237169..46238057-chr6:35464670..35465479,2	Hela-S3	cervix:
16	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
17	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
18	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
19	chr14:70233478..70234112-chr21:46237606..46238371,2	Hela-S3	cervix:
20	chr21:46235731..46237391-chr21:46308953..46310486,2	K562	blood:
21	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
22	chr19:56186135..56186635-chr21:46237432..46237966,2	Hela-S3	cervix:
23	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
24	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
25	chr21:46236918..46239386-chr21:46357793..46361272,3	K562	blood:
26	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
27	chr19:50092081..50093923-chr21:46237222..46239021,2	MCF-7	breast:
28	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
29	chr21:45298008..45300010-chr21:46238849..46240379,2	K562	blood:
30	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
31	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
32	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
33	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
34	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
35	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
36	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
37	chr17:56708448..56710403-chr21:46237510..46239366,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUMO3	TF binding region
SUMO3	CpG island
ENSG00000245322	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000227039	chromatin interactions
ENSG00000104907	chromatin interactions
ENSG00000007866	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000142546	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000160877	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000267523	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551975982	chr21:46236547-46236548	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs9975777	chr21:46236550-46236551	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531438835	chr21:46236555-46236556	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs9306117	chr21:46236581-46236582	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535137437	chr21:46236618-46236619	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs562045769	chr21:46236639-46236640	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs57205597	chr21:46236675-46236676	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569153183	chr21:46236683-46236684	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs566395455	chr21:46236696-46236697	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs540100627	chr21:46236697-46236698	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs558396587	chr21:46236699-46236700	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs544049530	chr21:46236737-46236738	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs148125507	chr21:46236778-46236779	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs113212756	chr21:46236796-46236797	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs555623325	chr21:46236808-46236809	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs114523049	chr21:46236826-46236827	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs112536684	chr21:46236831-46236832	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs574228309	chr21:46236836-46236837	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs115077807	chr21:46236856-46236857	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs572025056	chr21:46236870-46236871	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs192099380	chr21:46236907-46236908	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs545645875	chr21:46236914-46236915	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs183924957	chr21:46236935-46236936	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs559958203	chr21:46236953-46236954	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs370251385	chr21:46236974-46236975	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs570492929	chr21:46236998-46236999	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs564035339	chr21:46237012-46237013	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs9979741	chr21:46237066-46237067	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549930652	chr21:46237097-46237098	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs568054362	chr21:46237108-46237109	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs71322592	chr21:46237121-46237122	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528952810	chr21:46237149-46237150	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs143354761	chr21:46237166-46237167	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs547429190	chr21:46237175-46237176	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs565636465	chr21:46237188-46237189	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs370484736	chr21:46237193-46237194	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs533673279	chr21:46237203-46237204	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs552152288	chr21:46237206-46237207	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs235337	chr21:46237271-46237272	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs537283553	chr21:46237278-46237279	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs555908994	chr21:46237360-46237361	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs368428785	chr21:46237363-46237364	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs534761002	chr21:46237375-46237376	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs7282882	chr21:46237409-46237410	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187742411	chr21:46237421-46237422	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs372781522	chr21:46237440-46237441	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs544221711	chr21:46237487-46237488	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs7283053	chr21:46237518-46237519	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs557801169	chr21:46237557-46237558	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs72613649	chr21:46237560-46237561	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46224200-46236600	Weak transcription	Psoas Muscle	Psoas
4	chr21:46230000-46237200	Weak transcription	Fetal Kidney	kidney
5	chr21:46230600-46237200	Weak transcription	Aorta	Aorta
6	chr21:46230600-46237200	Weak transcription	Brain Angular Gyrus	brain
7	chr21:46230800-46236600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:46231000-46236600	Weak transcription	Primary B cells from cord blood	blood
9	chr21:46231200-46237000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:46231600-46236800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:46233000-46236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:46233000-46237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:46233000-46237000	Weak transcription	HMEC	breast
14	chr21:46233000-46237000	Weak transcription	NH-A	brain
15	chr21:46233200-46237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:46233600-46236800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:46233800-46236600	Weak transcription	Brain Germinal Matrix	brain
18	chr21:46233800-46237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:46233800-46237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr21:46233800-46237200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:46234000-46236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46234000-46236600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:46234000-46237000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr21:46234000-46237000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr21:46234000-46237000	Weak transcription	Fetal Thymus	thymus
26	chr21:46234000-46237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:46234200-46236600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:46234200-46236600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:46234200-46237000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:46234200-46237000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr21:46234400-46236600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr21:46234400-46237000	Enhancers	Osteobl	bone
33	chr21:46234600-46236600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr21:46234600-46237000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr21:46234600-46237000	Enhancers	NHDF-Ad	bronchial
36	chr21:46234800-46236600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:46234800-46236600	Enhancers	Right Ventricle	heart
38	chr21:46234800-46237000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr21:46234800-46237000	Enhancers	Adipose Nuclei	Adipose
40	chr21:46234800-46237000	Enhancers	Brain Anterior Caudate	brain
41	chr21:46235000-46236600	Genic enhancers	Spleen	Spleen
42	chr21:46235000-46236800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:46235000-46237000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46235000-46237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:46235000-46237000	Enhancers	Left Ventricle	heart
46	chr21:46235000-46237200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr21:46235000-46237200	Enhancers	Liver	Liver
48	chr21:46235200-46236800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr21:46235200-46237000	Enhancers	Placenta	Placenta
50	chr21:46235400-46236600	Weak transcription	Pancreas	Pancrea

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