Variant report

Variant	nsv1063936
Chromosome Location	chr21:40114130-40159150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:627)
CpG islands
(count:1038)
Chromatin interactive
region (count:53)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:627 , 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	chr21:40152421-40152431	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40127694-40128174	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40145329-40145397	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:40119715-40120026	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:40156435-40156752	HepG2	liver:	n/a	n/a
6	ATF1	chr21:40132422-40132621	K562	blood:	n/a	n/a
7	ATF2	chr21:40145173-40145529	GM12878	blood:	n/a	n/a
8	ATF2	chr21:40149376-40149885	GM12878	blood:	n/a	n/a
9	ATF2	chr21:40152793-40153216	GM12878	blood:	n/a	n/a
10	ATF2	chr21:40138963-40139770	GM12878	blood:	n/a	n/a
11	ATF2	chr21:40138982-40139801	GM12878	blood:	n/a	n/a
12	BATF	chr21:40138996-40139651	GM12878	blood:	n/a	n/a
13	BATF	chr21:40139078-40139381	GM12878	blood:	n/a	n/a
14	BATF	chr21:40145258-40145529	GM12878	blood:	n/a	n/a
15	BATF	chr21:40145171-40145631	GM12878	blood:	n/a	n/a
16	BCL11A	chr21:40145281-40145627	GM12878	blood:	n/a	chr21:40145429-40145438 chr21:40145430-40145439
17	BCLAF1	chr21:40138970-40139353	GM12878	blood:	n/a	chr21:40139272-40139281
18	BCLAF1	chr21:40138925-40139809	GM12878	blood:	n/a	chr21:40138942-40138951 chr21:40139272-40139281
19	BHLHE40	chr21:40140516-40140756	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:40131872-40132544	K562	blood:	n/a	chr21:40132242-40132251 chr21:40132236-40132257 chr21:40132242-40132251 chr21:40132240-40132253 chr21:40132243-40132252
21	BHLHE40	chr21:40127504-40127798	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:40138902-40139891	GM12878	blood:	n/a	n/a
23	BRCA1	chr21:40127583-40128066	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr21:40138080-40138400	K562	blood:	n/a	n/a
25	CEBPB	chr21:40152266-40152662	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr21:40131944-40132125	IMR90	lung:	n/a	n/a
27	CEBPB	chr21:40127539-40127961	ECC-1	luminal epithelium:	n/a	chr21:40127903-40127916
28	CEBPB	chr21:40143507-40143712	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr21:40152200-40152646	HCT-116	colon:	n/a	n/a
30	CEBPB	chr21:40117314-40117427	HepG2	liver:	n/a	n/a
31	CEBPB	chr21:40123847-40123852	HepG2	liver:	n/a	n/a
32	CEBPB	chr21:40145090-40145515	A549	lung:	n/a	n/a
33	CEBPB	chr21:40127712-40128135	H1-hESC	embryonic stem cell:	n/a	chr21:40127903-40127916
34	CEBPB	chr21:40127595-40128310	Hela-S3	cervix:	n/a	chr21:40127903-40127916
35	CEBPB	chr21:40127588-40127914	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr21:40144830-40145913	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr21:40159060-40160467	HCT-116	colon:	n/a	chr21:40159492-40159509 chr21:40159497-40159508 chr21:40159495-40159506 chr21:40159495-40159508
38	CEBPB	chr21:40156516-40156718	HepG2	liver:	n/a	n/a
39	CEBPB	chr21:40144779-40145970	IMR90	lung:	n/a	n/a
40	CEBPB	chr21:40153122-40153144	A549	lung:	n/a	n/a
41	CEBPB	chr21:40141296-40141713	IMR90	lung:	n/a	n/a
42	CEBPB	chr21:40128708-40128999	IMR90	lung:	n/a	n/a
43	CEBPB	chr21:40127580-40128348	IMR90	lung:	n/a	chr21:40127903-40127916
44	CEBPB	chr21:40127626-40128001	MCF-7	breast:	n/a	chr21:40127903-40127916
45	CEBPB	chr21:40127607-40128292	HepG2	liver:	n/a	chr21:40127903-40127916
46	CEBPB	chr21:40127678-40128314	A549	lung:	n/a	chr21:40127903-40127916
47	CEBPB	chr21:40127591-40128302	A549	lung:	n/a	chr21:40127903-40127916
48	CEBPB	chr21:40140611-40141059	IMR90	lung:	n/a	n/a
49	CEBPB	chr21:40117262-40117387	IMR90	lung:	n/a	n/a
50	CEBPB	chr21:40152968-40153151	HepG2	liver:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40145923-40145973	HEK293	kidney:	embryo
2	chr21:40145923-40145973	HEK293	kidney:	embryo
3	chr21:40123107-40123157	AG09319	gingival:	n/a
4	chr21:40125580-40125630	NHDF-neo	bronchial:	n/a
5	chr21:40141809-40141859	T-47D	breast:	n/a
6	chr21:40141040-40141090	Hela-S3	cervix:	n/a
7	chr21:40141809-40141859	BE2_C	brain:	n/a
8	chr21:40141756-40141806	HIPEpiC	eye:	n/a
9	chr21:40124363-40124413	U87	brain:	n/a
10	chr21:40124363-40124413	HL-60	blood:	n/a
11	chr21:40141569-40141619	PANC-1	pancreas:	n/a
12	chr21:40145923-40145973	MCF10A-Er-Src	breast:	n/a
13	chr21:40124308-40124358	SK-N-SH_RA	brain:	n/a
14	chr21:40141756-40141806	SK-N-SH	brain:	n/a
15	chr21:40141569-40141619	HCPEpiC	choroid plexus:	n/a
16	chr21:40141756-40141806	GM12878	blood:	n/a
17	chr21:40145923-40145973	AG09319	gingival:	n/a
18	chr21:40145923-40145973	HL-60	blood:	n/a
19	chr21:40124848-40124898	PANC-1	pancreas:	n/a
20	chr21:40124277-40124327	GM12891	blood:	n/a
21	chr21:40145404-40145454	AG04450	lung:	fetal
22	chr21:40146046-40146096	Caco-2	colon:	n/a
23	chr21:40124848-40124898	NT2-D1	testis:	n/a
24	chr21:40123107-40123157	PFSK-1	brain:	n/a
25	chr21:40146149-40146199	HCT-116	colon:	n/a
26	chr21:40141809-40141859	HCF	heart:	n/a
27	chr21:40146149-40146199	GM12891	blood:	n/a
28	chr21:40124363-40124413	NT2-D1	testis:	n/a
29	chr21:40145404-40145454	HepG2	liver:	n/a
30	chr21:40145923-40145973	BE2_C	brain:	n/a
31	chr21:40124277-40124327	HRE	kidney:	n/a
32	chr21:40141809-40141859	CMK	blood:	n/a
33	chr21:40123107-40123157	HL-60	blood:	n/a
34	chr21:40141040-40141090	U87	brain:	n/a
35	chr21:40124363-40124413	AG09319	gingival:	n/a
36	chr21:40124848-40124898	GM06990	blood:	n/a
37	chr21:40145361-40145411	RPTEC	kidney:	n/a
38	chr21:40124848-40124898	IMR90	lung:	fetal
39	chr21:40145923-40145973	K562	blood:	n/a
40	chr21:40141040-40141090	HepG2	liver:	n/a
41	chr21:40124848-40124898	AG04449	skin:	fetal
42	chr21:40124848-40124898	BE2_C	brain:	n/a
43	chr21:40124308-40124358	HepG2	liver:	n/a
44	chr21:40123107-40123157	NT2-D1	testis:	n/a
45	chr21:40124792-40124842	IMR90	lung:	fetal
46	chr21:40141756-40141806	GM19239	blood:	n/a
47	chr21:40145404-40145454	H1-hESC	embryonic stem cell:	embryo
48	chr21:40124792-40124842	PFSK-1	brain:	n/a
49	chr21:40145361-40145411	HMEC	breast:	n/a
50	chr21:40145361-40145411	HPAEpiC	pulmonary alveolar:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:40158554..40160478-chr21:40163082..40164922,2	K562	blood:
2	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
3	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
4	chr21:40131381..40133556-chr21:40182644..40184229,2	K562	blood:
5	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
6	chr21:40110884..40114912-chr21:40179006..40181984,4	MCF-7	breast:
7	chr21:40126380..40129299-chr21:40174705..40177451,3	MCF-7	breast:
8	chr21:40119237..40120879-chr21:40122622..40125319,2	K562	blood:
9	chr21:40158395..40160245-chr21:40285498..40288135,2	MCF-7	breast:
10	chr21:40151697..40154341-chr21:40177555..40180679,4	K562	blood:
11	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
12	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
13	chr21:40127518..40129462-chr21:40170586..40172913,2	MCF-7	breast:
14	chr21:40156267..40158669-chr21:40161958..40164607,2	K562	blood:
15	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
16	chr21:40156601..40161503-chr21:40174870..40178905,10	MCF-7	breast:
17	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:
18	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
19	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
20	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
21	chr21:40128876..40131323-chr21:40553802..40556244,2	K562	blood:
22	chr21:40158041..40161910-chr21:40175596..40180594,8	K562	blood:
23	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
24	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
25	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
26	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
27	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
28	chr21:40142694..40145286-chr21:40175526..40177363,2	K562	blood:
29	chr21:40158554..40160744-chr21:40179736..40182469,2	MCF-7	breast:
30	chr21:40118598..40121434-chr21:40123073..40125443,2	MCF-7	breast:
31	chr21:40151697..40154341-chr21:40177180..40179179,3	K562	blood:
32	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
33	chr21:40156369..40159602-chr21:40175863..40178894,4	K562	blood:
34	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
35	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
36	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
37	chr21:39714897..39716784-chr21:40158367..40161064,2	MCF-7	breast:
38	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:
39	chr21:40116993..40119222-chr21:40177945..40180622,2	MCF-7	breast:
40	chr21:40130290..40133520-chr21:40176178..40179147,4	K562	blood:
41	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:
42	chr21:40156379..40158519-chr21:40187612..40190020,2	MCF-7	breast:
43	chr21:40130024..40132037-chr21:40276501..40279158,2	K562	blood:
44	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
45	chr21:40129051..40130983-chr21:40175842..40178311,2	K562	blood:
46	chr21:40112842..40114709-chr21:40120595..40122740,2	K562	blood:
47	chr21:40131678..40133520-chr21:40176178..40178234,2	K562	blood:
48	chr21:40021665..40023567-chr21:40158455..40160815,2	K562	blood:
49	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
50	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40118223-40118340	NR_027065
2	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
3	lnc-ERG-2	chr21:40145373-40145401	NONHSAT082118
4	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
5	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
6	lnc-ERG-2	chr21:40118223-40118342	XLOC_014073
7	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
8	lnc-ERG-2	chr21:40124131-40124181	XLOC_014073
9	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
10	lnc-ERG-2	chr21:40145373-40145401	NR_027065
11	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
12	lnc-ERG-2	chr21:40119321-40119384	NONHSAT082118
13	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
14	lnc-ERG-2	chr21:40140771-40140898	NONHSAT082122
15	lnc-ERG-2	chr21:40118223-40118340	NONHSAT082118
16	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
17	lnc-ERG-2	chr21:40140769-40140898	XLOC_014073
18	lnc-ERG-2	chr21:40118223-40118342	NONHSAT082122
19	lnc-ERG-2	chr21:40119321-40119384	NR_027065
20	lnc-ERG-2	chr21:40113245-40114441	XLOC_014073
21	lnc-ERG-2	chr21:40118223-40118340	XLOC_014073
22	lnc-ERG-2	chr21:40145373-40145401	XLOC_014073

No data

Variant related genes	Relation type
LINC00114	TF binding region
LINC00114	CpG island
ENSG00000157557	chromatin interactions
ENSG00000223806	chromatin interactions
ENSG00000234035	chromatin interactions
ENSG00000183527	chromatin interactions
TMX3	miRNA target sites
ENAH	miRNA target sites

Extended variants
information (count: 1708 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1708 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558318905	chr21:40114159-40114160	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs578142144	chr21:40114207-40114208	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs113022205	chr21:40114212-40114213	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs540697487	chr21:40114213-40114214	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs560413874	chr21:40114222-40114223	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs77324117	chr21:40114224-40114225	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs377223964	chr21:40114235-40114236	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs182339337	chr21:40114247-40114248	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs112759269	chr21:40114252-40114253	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs530709503	chr21:40114276-40114277	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs550647660	chr21:40114385-40114386	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs564373031	chr21:40114386-40114387	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs17230826	chr21:40114431-40114432	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs139794915	chr21:40114466-40114467	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546641398	chr21:40114479-40114480	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566593062	chr21:40114515-40114516	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535392244	chr21:40114524-40114525	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536797530	chr21:40114550-40114551	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549007349	chr21:40114561-40114562	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143179090	chr21:40114613-40114614	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs548808512	chr21:40114643-40114644	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146622686	chr21:40114659-40114660	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141422918	chr21:40114690-40114691	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534342119	chr21:40114747-40114748	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs578110424	chr21:40114756-40114757	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373751119	chr21:40114764-40114765	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573394152	chr21:40114857-40114858	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553210372	chr21:40114885-40114886	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547315604	chr21:40114897-40114898	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370328210	chr21:40114898-40114899	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187858574	chr21:40114899-40114900	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558837093	chr21:40114925-40114926	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs13053122	chr21:40114926-40114927	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555079418	chr21:40114946-40114947	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199503843	chr21:40114952-40114953	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201641563	chr21:40114966-40114967	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376076556	chr21:40114977-40114978	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562512630	chr21:40114989-40114990	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200983390	chr21:40114992-40114993	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561442190	chr21:40114993-40114994	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573808031	chr21:40115029-40115030	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571602040	chr21:40115030-40115031	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376221174	chr21:40115032-40115033	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542756049	chr21:40115047-40115048	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142956135	chr21:40115054-40115055	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs28571705	chr21:40115069-40115070	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560842863	chr21:40115070-40115071	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569501748	chr21:40115078-40115079	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs57022594	chr21:40115110-40115111	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs202117432	chr21:40115111-40115112	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40111600-40116200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40111600-40116400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40111800-40114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:40111800-40114200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40112000-40114400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:40112000-40115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:40112200-40115000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:40112400-40114400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr21:40112800-40114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:40112800-40114200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:40112800-40114200	Enhancers	Colonic Mucosa	Colon
13	chr21:40112800-40114400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:40113000-40114200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:40113000-40114200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:40113000-40114400	Enhancers	Primary T cells from cord blood	blood
17	chr21:40113400-40114200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr21:40113600-40114200	Enhancers	HepG2	liver
19	chr21:40113600-40114400	Enhancers	K562	blood
20	chr21:40113600-40115800	Weak transcription	Small Intestine	intestine
21	chr21:40113800-40116000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:40113800-40119200	Weak transcription	Spleen	Spleen
23	chr21:40114000-40115600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:40114000-40115600	Weak transcription	Lung	lung
25	chr21:40114000-40115600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:40114000-40118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:40114000-40119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:40114200-40119000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr21:40114800-40115400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:40114800-40115400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
33	chr21:40115000-40115200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:40115000-40115400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr21:40115400-40116400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr21:40115400-40129600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:40115600-40115800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:40115600-40115800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr21:40115600-40115800	Bivalent Enhancer	HUVEC	blood vessel
40	chr21:40115600-40116200	Bivalent Enhancer	Fetal Stomach	stomach
41	chr21:40115600-40116400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:40115600-40116400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr21:40115600-40116400	Enhancers	Lung	lung
44	chr21:40115800-40116000	Enhancers	Small Intestine	intestine
45	chr21:40115800-40116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:40115800-40116400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:40115800-40116400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
48	chr21:40115800-40120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:40116000-40116200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:40116000-40116400	Active TSS	Duodenum Smooth Muscle	Duodenum

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