Variant report

Variant	esv3430408
Chromosome Location	chr21:40176482-40179580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:924)
CpG islands
(count:549)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40177378-40177886	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40178708-40179188	K562	blood:	n/a	chr21:40179024-40179040
3	ARID3A	chr21:40177737-40177886	K562	blood:	n/a	n/a
4	ATF3	chr21:40177241-40177483	K562	blood:	n/a	n/a
5	BACH1	chr21:40177000-40177993	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr21:40176534-40176680	K562	blood:	n/a	chr21:40176534-40176548
7	BACH1	chr21:40178268-40178594	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr21:40177269-40178048	HepG2	liver:	n/a	chr21:40177521-40177537 chr21:40178024-40178040 chr21:40177983-40177999 chr21:40177980-40177996
9	BHLHE40	chr21:40177399-40177527	A549	lung:	n/a	n/a
10	BHLHE40	chr21:40177224-40177977	GM12878	blood:	n/a	chr21:40177521-40177537
11	BHLHE40	chr21:40178214-40178334	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:40176743-40178040	K562	blood:	n/a	chr21:40177521-40177537 chr21:40178024-40178040 chr21:40177983-40177999 chr21:40177093-40177109 chr21:40177980-40177996
13	BRCA1	chr21:40178304-40178337	GM12878	blood:	n/a	n/a
14	BRCA1	chr21:40177069-40177980	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr21:40177229-40177951	K562	blood:	n/a	n/a
16	CCNT2	chr21:40176993-40179135	K562	blood:	n/a	n/a
17	CEBPB	chr21:40177249-40177414	K562	blood:	n/a	n/a
18	CEBPB	chr21:40176916-40177988	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr21:40178796-40179223	K562	blood:	n/a	n/a
20	CEBPD	chr21:40177685-40177934	HepG2	liver:	n/a	n/a
21	CEBPD	chr21:40177389-40178099	HepG2	liver:	n/a	n/a
22	CHD1	chr21:40178667-40179378	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr21:40177257-40177353	GM12878	blood:	n/a	n/a
24	CHD1	chr21:40177183-40177186	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr21:40175807-40184420	IMR90	lung:	n/a	chr21:40183942-40183952
26	CHD2	chr21:40177438-40177932	HepG2	liver:	n/a	n/a
27	CHD2	chr21:40177147-40177158	HepG2	liver:	n/a	n/a
28	CHD2	chr21:40178487-40178569	K562	blood:	n/a	n/a
29	CHD2	chr21:40176991-40178033	K562	blood:	n/a	n/a
30	CHD2	chr21:40176895-40178096	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr21:40178394-40178706	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr21:40176961-40177872	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr21:40177658-40177858	GM12878	blood:	n/a	n/a
34	CHD2	chr21:40177417-40177419	GM12878	blood:	n/a	n/a
35	CREB1	chr21:40176932-40177240	A549	lung:	n/a	n/a
36	CREB1	chr21:40177298-40178167	A549	lung:	n/a	n/a
37	CTBP2	chr21:40176884-40178663	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr21:40177680-40177830	GM12875	blood:	n/a	n/a
39	CTCF	chr21:40176993-40177208	LNCaP	prostate:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
40	CTCF	chr21:40176319-40179110	SK-N-SH	brain:	n/a	chr21:40177982-40177995 chr21:40177095-40177108 chr21:40177092-40177110 chr21:40177520-40177533
41	CTCF	chr21:40178160-40178310	GM12873	blood:	n/a	n/a
42	CTCF	chr21:40177000-40177150	AG10803	skin:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
43	CTCF	chr21:40176680-40176830	Caco-2	colon:	n/a	n/a
44	CTCF	chr21:40178280-40178430	AG10803	skin:	n/a	n/a
45	CTCF	chr21:40177040-40177190	GM12869	blood:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
46	CTCF	chr21:40176991-40177207	K562	blood:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
47	CTCF	chr21:40177003-40177177	A549	lung:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
48	CTCF	chr21:40176960-40177110	HFF-Myc	foreskin:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
49	CTCF	chr21:40177000-40177150	HepG2	liver:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
50	CTCF	chr21:40177780-40177930	HPAF	blood vessel:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40178652-40178702	HMEC	breast:	n/a
2	chr21:40177847-40177897	SAEC	small airway:	n/a
3	chr21:40177887-40177937	HEK293	kidney:	embryo
4	chr21:40176597-40176647	Hepatocyte	liver:	n/a
5	chr21:40178652-40178702	U87	brain:	n/a
6	chr21:40177852-40177902	NH-A	brain:	n/a
7	chr21:40177852-40177902	GM19239	blood:	n/a
8	chr21:40178431-40178481	HAEpiC	amniotic membrane:	n/a
9	chr21:40178652-40178702	HCM	heart:	n/a
10	chr21:40177165-40177215	SAEC	small airway:	n/a
11	chr21:40176597-40176647	NHBE	bronchial:	n/a
12	chr21:40177165-40177215	HNPCEpiC	eye:	n/a
13	chr21:40177852-40177902	Hepatocyte	liver:	n/a
14	chr21:40176597-40176647	PANC-1	pancreas:	n/a
15	chr21:40176950-40177000	HRCEpiC	kidney:	n/a
16	chr21:40177003-40177053	HNPCEpiC	eye:	n/a
17	chr21:40176597-40176647	HCM	heart:	n/a
18	chr21:40177165-40177215	BJ	skin:	n/a
19	chr21:40176950-40177000	HCT-116	colon:	n/a
20	chr21:40177165-40177215	GM12878	blood:	n/a
21	chr21:40178431-40178481	HEEpiC	esophagus:	n/a
22	chr21:40177887-40177937	HMEC	breast:	n/a
23	chr21:40177003-40177053	HepG2	liver:	n/a
24	chr21:40176597-40176647	HCF	heart:	n/a
25	chr21:40177852-40177902	SAEC	small airway:	n/a
26	chr21:40177165-40177215	ECC-1	luminal epithelium:	n/a
27	chr21:40177847-40177897	BE2_C	brain:	n/a
28	chr21:40177887-40177937	Hepatocyte	liver:	n/a
29	chr21:40177847-40177897	HRE	kidney:	n/a
30	chr21:40178431-40178481	U87	brain:	n/a
31	chr21:40176950-40177000	CMK	blood:	n/a
32	chr21:40176597-40176647	HRPEpiC	eye:	n/a
33	chr21:40178652-40178702	SAEC	small airway:	n/a
34	chr21:40177165-40177215	AG09309	skin:	n/a
35	chr21:40177887-40177937	HRCEpiC	kidney:	n/a
36	chr21:40177847-40177897	ProgFib	skin:	n/a
37	chr21:40177847-40177897	HNPCEpiC	eye:	n/a
38	chr21:40177003-40177053	NHBE	bronchial:	n/a
39	chr21:40176597-40176647	AG04449	skin:	fetal
40	chr21:40176950-40177000	SAEC	small airway:	n/a
41	chr21:40176950-40177000	ovcar-3	ovarian:	n/a
42	chr21:40177852-40177902	GM12878	blood:	n/a
43	chr21:40177003-40177053	BE2_C	brain:	n/a
44	chr21:40177003-40177053	HRE	kidney:	n/a
45	chr21:40177852-40177902	U87	brain:	n/a
46	chr21:40177847-40177897	NT2-D1	testis:	n/a
47	chr21:40177003-40177053	HCPEpiC	choroid plexus:	n/a
48	chr21:40176597-40176647	BJ	skin:	n/a
49	chr21:40178431-40178481	AG09319	gingival:	n/a
50	chr21:40176597-40176647	SKMC	muscle:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59940341..59941197-chr21:40177450..40178230,2	Hela-S3	cervix:
2	chr21:40176403..40178101-chr21:40218059..40219647,2	K562	blood:
3	chr21:40178812..40180456-chr21:40337476..40339566,2	MCF-7	breast:
4	chr21:40175975..40176770-chr21:40394504..40395431,2	MCF-7	breast:
5	chr21:40176416..40178956-chr21:40498284..40502065,4	MCF-7	breast:
6	chr21:40177082..40177855-chr9:125666873..125667749,2	Hela-S3	cervix:
7	chr21:40174647..40179577-chr21:40285247..40287797,5	MCF-7	breast:
8	chr11:67249840..67250624-chr21:40177263..40178201,2	Hela-S3	cervix:
9	chr21:40174974..40176584-chr21:40544801..40546577,2	K562	blood:
10	chr21:40177965..40179709-chr21:40267730..40269357,2	K562	blood:
11	chr21:40164421..40166863-chr21:40178031..40179684,2	MCF-7	breast:
12	chr21:40178699..40181140-chr21:40363859..40366639,2	MCF-7	breast:
13	chr21:40105514..40106081-chr21:40176310..40177112,2	MCF-7	breast:
14	chr21:40159708..40161955-chr21:40178038..40180627,4	K562	blood:
15	chr1:210546726..210547661-chr21:40176943..40177887,2	Hela-S3	cervix:
16	chr21:40177663..40178343-chr6:27113539..27114763,3	Hela-S3	cervix:
17	chr21:40110884..40114912-chr21:40179006..40181984,4	MCF-7	breast:
18	chr21:40116993..40119222-chr21:40177945..40180622,2	MCF-7	breast:
19	chr21:40176601..40179515-chr21:40218059..40219886,2	K562	blood:
20	chr2:86902482..86903131-chr21:40176151..40176774,2	MCF-7	breast:
21	chr21:40178266..40180085-chr21:40683590..40685773,2	K562	blood:
22	chr16:2205045..2205567-chr21:40177575..40178112,2	Hela-S3	cervix:
23	chr21:40084560..40086219-chr21:40178375..40180682,2	MCF-7	breast:
24	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
25	chr21:40176416..40179104-chr21:40257484..40260730,3	MCF-7	breast:
26	chr21:40177696..40178382-chr3:121467811..121468789,2	Hela-S3	cervix:
27	chr21:40177189..40177905-chr5:108744975..108745566,2	Hela-S3	cervix:
28	chr21:40176662..40177180-chr21:40510094..40510804,2	MCF-7	breast:
29	chr21:40178030..40178651-chr9:140135018..140135878,2	Hela-S3	cervix:
30	chr21:39459813..39461583-chr21:40177879..40180565,2	K562	blood:
31	chr17:56708960..56710551-chr21:40179087..40181120,2	MCF-7	breast:
32	chr21:40177627..40180426-chr21:40542526..40544967,2	K562	blood:
33	chr21:40176263..40179138-chr21:40817088..40818717,2	K562	blood:
34	chr21:40176740..40177648-chr7:16685493..16686292,2	Hela-S3	cervix:
35	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
36	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:
37	chr21:40176632..40177186-chr21:40455915..40456479,2	MCF-7	breast:
38	chr21:40113948..40115514-chr21:40177430..40179064,2	K562	blood:

No data

Variant related genes	Relation type
ETS2	TF binding region
ETS2	CpG island
ENSG00000136261	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000229925	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000198961	chromatin interactions
ENSG00000228861	chromatin interactions
ENSG00000173230	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000229986	chromatin interactions
ENSG00000234035	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000235701	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000223806	chromatin interactions
ENSG00000206630	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570848107	chr21:40176506-40176507	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs539601272	chr21:40176512-40176513	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs137953274	chr21:40176522-40176523	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs566927064	chr21:40176551-40176552	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs74765130	chr21:40176561-40176562	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs555864086	chr21:40176579-40176580	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs78756499	chr21:40176614-40176615	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs377242817	chr21:40176646-40176647	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs149002382	chr21:40176660-40176661	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs2283639	chr21:40176693-40176694	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545995077	chr21:40176736-40176737	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs370469623	chr21:40176772-40176773	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs77825039	chr21:40176794-40176795	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs559302574	chr21:40176808-40176809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs573030294	chr21:40176812-40176813	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs541542188	chr21:40176877-40176878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs148132256	chr21:40176902-40176903	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs572223267	chr21:40177032-40177033	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs386818481	chr21:40177053-40177054	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs28375993	chr21:40177054-40177055	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564390254	chr21:40177118-40177119	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs577314779	chr21:40177143-40177144	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs533465681	chr21:40177253-40177254	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs142970446	chr21:40177276-40177277	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs566934752	chr21:40177303-40177304	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs73450548	chr21:40177325-40177326	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191293935	chr21:40177344-40177345	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs146079228	chr21:40177392-40177393	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs549200277	chr21:40177415-40177416	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs569383356	chr21:40177431-40177432	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs375677993	chr21:40177454-40177455	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs538197232	chr21:40177482-40177483	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs558207037	chr21:40177498-40177499	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs368186095	chr21:40177499-40177500	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs371316224	chr21:40177616-40177617	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs373528821	chr21:40177619-40177620	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs539731853	chr21:40177658-40177659	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs562904252	chr21:40177739-40177740	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs138866678	chr21:40177764-40177765	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
40	rs542045687	chr21:40177822-40177823	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
41	rs540664963	chr21:40177839-40177840	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs560977728	chr21:40177846-40177847	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs574996013	chr21:40177902-40177903	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs569333457	chr21:40177953-40177954	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs543775608	chr21:40177968-40177969	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs563754339	chr21:40177975-40177976	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs532798149	chr21:40177987-40177988	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs185407591	chr21:40178042-40178043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs190801053	chr21:40178043-40178044	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs529427446	chr21:40178044-40178045	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
2	chr21:40166600-40177000	Weak transcription	Gastric	stomach
3	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:40169600-40176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:40170400-40176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:40171200-40176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:40172000-40177000	Enhancers	HepG2	liver
8	chr21:40172600-40176800	Enhancers	K562	blood
9	chr21:40172600-40177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:40173000-40176800	Weak transcription	Right Atrium	heart
11	chr21:40173400-40176800	Enhancers	Placenta	Placenta
12	chr21:40173600-40176800	Enhancers	Stomach Mucosa	stomach
13	chr21:40173800-40176600	Weak transcription	HMEC	breast
14	chr21:40174200-40176600	Enhancers	Fetal Lung	lung
15	chr21:40174400-40176600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:40174400-40176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40175200-40176800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:40175400-40176600	Enhancers	NHEK	skin
19	chr21:40175400-40176800	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:40175400-40176800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr21:40175400-40177000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:40175400-40177000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:40175400-40177000	Enhancers	Esophagus	oesophagus
24	chr21:40175400-40177200	Enhancers	Lung	lung
25	chr21:40175800-40176800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr21:40175800-40176800	Enhancers	Fetal Stomach	stomach
27	chr21:40176000-40176600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:40176000-40176600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:40176000-40176600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:40176000-40176600	Weak transcription	NHLF	lung
31	chr21:40176000-40176800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr21:40176000-40176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:40176000-40176800	Enhancers	Fetal Muscle Leg	muscle
34	chr21:40176000-40176800	Enhancers	Pancreas	Pancrea
35	chr21:40176000-40176800	Active TSS	Stomach Smooth Muscle	stomach
36	chr21:40176000-40176800	Enhancers	GM12878-XiMat	blood
37	chr21:40176000-40177000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr21:40176000-40177400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:40176000-40177600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:40176200-40176600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:40176200-40176600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr21:40176200-40176600	Enhancers	Primary T cells from cord blood	blood
43	chr21:40176200-40176600	Enhancers	Colonic Mucosa	Colon
44	chr21:40176200-40176600	Enhancers	Dnd41	blood
45	chr21:40176200-40176600	Enhancers	Osteobl	bone
46	chr21:40176200-40176800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr21:40176200-40176800	Weak transcription	Small Intestine	intestine
48	chr21:40176200-40176800	Enhancers	HUVEC	blood vessel
49	chr21:40176200-40176800	Enhancers	NHDF-Ad	bronchial
50	chr21:40176200-40177400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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