Variant report

Variant	esv3341187
Chromosome Location	chr21:45378374-45380872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:307)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45377401-45378674	GM12878	blood:	n/a	n/a
2	ATF2	chr21:45377328-45379353	GM12878	blood:	n/a	n/a
3	BATF	chr21:45378215-45378758	GM12878	blood:	n/a	n/a
4	BCL11A	chr21:45378019-45378899	GM12878	blood:	n/a	n/a
5	BCL3	chr21:45377223-45379384	GM12878	blood:	n/a	n/a
6	BCL3	chr21:45378202-45379385	GM12878	blood:	n/a	n/a
7	BCLAF1	chr21:45377397-45378784	GM12878	blood:	n/a	n/a
8	BCLAF1	chr21:45378026-45378997	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:45379010-45379146	HepG2	liver:	n/a	n/a
10	BHLHE40	chr21:45377518-45379536	GM12878	blood:	n/a	n/a
11	BRCA1	chr21:45378314-45379424	GM12878	blood:	n/a	n/a
12	CEBPB	chr21:45378091-45379276	GM12878	blood:	n/a	n/a
13	CEBPB	chr21:45378131-45378571	GM12878	blood:	n/a	n/a
14	CEBPB	chr21:45379071-45379082	A549	lung:	n/a	n/a
15	CHD1	chr21:45379271-45379311	GM12878	blood:	n/a	n/a
16	CHD1	chr21:45379025-45379043	GM12878	blood:	n/a	n/a
17	CHD2	chr21:45379241-45379245	GM12878	blood:	n/a	n/a
18	CHD2	chr21:45377325-45378982	GM12878	blood:	n/a	n/a
19	CTCF	chr21:45379028-45379032	GM12892	blood:	n/a	n/a
20	CTCF	chr21:45378818-45378908	GM12891	blood:	n/a	n/a
21	CTCF	chr21:45378165-45379373	GM19239	blood:	n/a	n/a
22	CTCF	chr21:45379007-45379100	GM12891	blood:	n/a	n/a
23	CTCF	chr21:45379178-45379268	GM12892	blood:	n/a	n/a
24	CTCF	chr21:45379375-45379377	GM19239	blood:	n/a	n/a
25	CTCF	chr21:45378618-45378901	GM12892	blood:	n/a	n/a
26	CTCF	chr21:45379039-45379139	GM12892	blood:	n/a	n/a
27	CTCF	chr21:45379389-45379393	GM19239	blood:	n/a	n/a
28	CUX1	chr21:45377660-45378508	GM12878	blood:	n/a	n/a
29	EBF1	chr21:45377031-45378897	GM12878	blood:	n/a	chr21:45377830-45377843 chr21:45377268-45377281 chr21:45377831-45377842
30	EBF1	chr21:45379259-45379310	GM12878	blood:	n/a	n/a
31	EBF1	chr21:45378177-45378846	GM12878	blood:	n/a	n/a
32	EBF1	chr21:45379596-45379996	GM12878	blood:	n/a	n/a
33	EBF1	chr21:45378112-45379276	GM12878	blood:	n/a	n/a
34	ELF1	chr21:45378819-45379934	GM12878	blood:	n/a	n/a
35	ELK1	chr21:45378854-45379106	GM12878	blood:	n/a	n/a
36	ELK1	chr21:45378378-45378630	GM12878	blood:	n/a	n/a
37	EP300	chr21:45377381-45379387	GM12878	blood:	n/a	chr21:45377861-45377875
38	EP300	chr21:45377605-45379074	GM12878	blood:	n/a	chr21:45377861-45377875
39	EP300	chr21:45378689-45378966	GM12878	blood:	n/a	n/a
40	FOXM1	chr21:45377228-45378890	GM12878	blood:	n/a	n/a
41	GATA2	chr21:45378411-45379553	K562	blood:	n/a	n/a
42	HMGN3	chr21:45379445-45379625	K562	blood:	n/a	n/a
43	IRF4	chr21:45377990-45379155	GM12878	blood:	n/a	n/a
44	IRF4	chr21:45378021-45379476	GM12878	blood:	n/a	n/a
45	MAX	chr21:45378939-45378940	NB4	blood:	n/a	n/a
46	MAX	chr21:45377683-45379336	GM12878	blood:	n/a	chr21:45377760-45377770
47	MAZ	chr21:45377304-45379011	GM12878	blood:	n/a	chr21:45377760-45377770
48	MTA3	chr21:45376512-45379577	GM12878	blood:	n/a	n/a
49	MTA3	chr21:45377068-45379446	GM12878	blood:	n/a	n/a
50	MXI1	chr21:45378343-45378588	GM12878	blood:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45379652-45379702	SAEC	small airway:	n/a
2	chr21:45379721-45379771	RPTEC	kidney:	n/a
3	chr21:45379652-45379702	SAEC	small airway:	n/a
4	chr21:45379721-45379771	RPTEC	kidney:	n/a
5	chr21:45379652-45379702	NB4	blood:	n/a
6	chr21:45379652-45379702	HepG2	liver:	n/a
7	chr21:45379595-45379645	Hepatocyte	liver:	n/a
8	chr21:45379546-45379596	AG04450	lung:	fetal
9	chr21:45379721-45379771	IMR90	lung:	fetal
10	chr21:45379652-45379702	NT2-D1	testis:	n/a
11	chr21:45379489-45379539	T-47D	breast:	n/a
12	chr21:45379721-45379771	NHDF-neo	bronchial:	n/a
13	chr21:45379595-45379645	A549	lung:	n/a
14	chr21:45379546-45379596	BE2_C	brain:	n/a
15	chr21:45379489-45379539	NB4	blood:	n/a
16	chr21:45379652-45379702	AG04450	lung:	fetal
17	chr21:45379546-45379596	ovcar-3	ovarian:	n/a
18	chr21:45379595-45379645	HCPEpiC	choroid plexus:	n/a
19	chr21:45379721-45379771	HCM	heart:	n/a
20	chr21:45379595-45379645	SK-N-SH_RA	brain:	n/a
21	chr21:45379652-45379702	SK-N-MC	brain:	n/a
22	chr21:45379595-45379645	HRPEpiC	eye:	n/a
23	chr21:45379721-45379771	HEEpiC	esophagus:	n/a
24	chr21:45379595-45379645	HEK293	kidney:	embryo
25	chr21:45379721-45379771	NT2-D1	testis:	n/a
26	chr21:45379721-45379771	HRE	kidney:	n/a
27	chr21:45379652-45379702	H1-hESC	embryonic stem cell:	embryo
28	chr21:45379652-45379702	HIPEpiC	eye:	n/a
29	chr21:45379652-45379702	HRE	kidney:	n/a
30	chr21:45379595-45379645	AG04449	skin:	fetal
31	chr21:45379721-45379771	ECC-1	luminal epithelium:	n/a
32	chr21:45379652-45379702	BJ	skin:	n/a
33	chr21:45379489-45379539	AG04449	skin:	fetal
34	chr21:45379546-45379596	NHBE	bronchial:	n/a
35	chr21:45379652-45379702	MCF10A-Er-Src	breast:	n/a
36	chr21:45379546-45379596	HRE	kidney:	n/a
37	chr21:45379595-45379645	GM12891	blood:	n/a
38	chr21:45379546-45379596	HCT-116	colon:	n/a
39	chr21:45379721-45379771	NHBE	bronchial:	n/a
40	chr21:45379721-45379771	K562	blood:	n/a
41	chr21:45379546-45379596	HL-60	blood:	n/a
42	chr21:45379546-45379596	NH-A	brain:	n/a
43	chr21:45379489-45379539	SK-N-MC	brain:	n/a
44	chr21:45379489-45379539	PANC-1	pancreas:	n/a
45	chr21:45379652-45379702	GM12878	blood:	n/a
46	chr21:45379595-45379645	HL-60	blood:	n/a
47	chr21:45379546-45379596	BJ	skin:	n/a
48	chr21:45379546-45379596	HepG2	liver:	n/a
49	chr21:45379546-45379596	HUVEC	blood vessel:	n/a
50	chr21:45379546-45379596	AG09319	gingival:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45230137..45233337-chr21:45376476..45379330,3	K562	blood:
2	chr21:45371946..45375677-chr21:45376772..45380405,4	K562	blood:
3	chr21:45376632..45379343-chr21:45547274..45551016,3	K562	blood:
4	chr21:45373248..45376650-chr21:45380106..45384275,6	K562	blood:
5	chr21:45374823..45379974-chr21:45380727..45386042,6	K562	blood:
6	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
7	chr21:45229167..45230861-chr21:45380337..45383260,2	K562	blood:
8	chr21:45375996..45377603-chr21:45380866..45383184,2	MCF-7	breast:
9	chr21:45374823..45379974-chr21:45380727..45386042,6	K562	blood:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
AGPAT3	CpG island
ENSG00000160216	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000160218	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373688987	chr21:45378399-45378400	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs573845202	chr21:45378431-45378432	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs575280996	chr21:45378434-45378435	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs542664237	chr21:45378439-45378440	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs554650259	chr21:45378442-45378443	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs573718234	chr21:45378443-45378444	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs541240746	chr21:45378451-45378452	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs559310687	chr21:45378457-45378458	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566793632	chr21:45378469-45378470	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs538027911	chr21:45378494-45378495	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs200200025	chr21:45378521-45378522	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs371881855	chr21:45378532-45378533	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs61033068	chr21:45378552-45378553	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370909832	chr21:45378566-45378567	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs545372210	chr21:45378599-45378600	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs563229871	chr21:45378600-45378601	Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs530533187	chr21:45378627-45378628	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs150442055	chr21:45378631-45378632	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs368009130	chr21:45378632-45378633	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs549066376	chr21:45378655-45378656	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs111213094	chr21:45378670-45378671	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs545180470	chr21:45378684-45378685	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs567378869	chr21:45378686-45378687	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs370648356	chr21:45378693-45378694	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs199709051	chr21:45378720-45378721	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs528202324	chr21:45378724-45378725	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs547156403	chr21:45378770-45378771	Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs111174489	chr21:45378814-45378815	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs560068873	chr21:45378816-45378817	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs572132282	chr21:45378817-45378818	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs370090021	chr21:45378824-45378825	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs374369102	chr21:45378829-45378830	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs539316333	chr21:45378830-45378831	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs550863725	chr21:45378846-45378847	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs368725203	chr21:45378864-45378865	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs376256627	chr21:45378873-45378874	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs386819097	chr21:45378884-45378885	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs371042467	chr21:45378885-45378886	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs554613402	chr21:45378910-45378911	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs62641517	chr21:45378937-45378938	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs62654735	chr21:45378942-45378943	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs573262845	chr21:45378946-45378947	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs62654736	chr21:45378947-45378948	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs375100042	chr21:45378962-45378963	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs200253938	chr21:45378963-45378964	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs542882562	chr21:45378964-45378965	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs561231983	chr21:45378974-45378975	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs531941388	chr21:45378976-45378977	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs368472857	chr21:45379028-45379029	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs577768565	chr21:45379038-45379039	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:45359200-45378800	Weak transcription	NHEK	skin
3	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:45361000-45379200	Weak transcription	Ovary	ovary
6	chr21:45364800-45378400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45367200-45379200	Weak transcription	Fetal Brain Female	brain
8	chr21:45368400-45379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:45368400-45379800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:45369200-45379400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:45369400-45378600	Weak transcription	HepG2	liver
12	chr21:45369400-45379800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:45369400-45388800	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:45369600-45379000	Weak transcription	Brain Angular Gyrus	brain
15	chr21:45369600-45379200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:45369600-45379400	Weak transcription	Aorta	Aorta
17	chr21:45369600-45381200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:45369800-45379400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:45370000-45378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr21:45370000-45379200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr21:45370000-45379600	Weak transcription	Brain Germinal Matrix	brain
22	chr21:45370000-45381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:45370000-45384000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:45370200-45378600	Weak transcription	Thymus	Thymus
26	chr21:45370200-45378800	Weak transcription	Primary T cells from cord blood	blood
27	chr21:45370400-45379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:45371400-45379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:45372600-45379000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr21:45372800-45380000	Weak transcription	Small Intestine	intestine
31	chr21:45373000-45379400	Weak transcription	Colonic Mucosa	Colon
32	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
33	chr21:45373800-45381000	Weak transcription	HSMM	muscle
34	chr21:45374200-45380200	Weak transcription	HSMMtube	muscle
35	chr21:45374400-45379000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
37	chr21:45374600-45378400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:45374600-45378600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr21:45375000-45379200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:45375200-45378600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:45375400-45379000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr21:45375400-45379400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:45375800-45378400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr21:45375800-45378800	Enhancers	Fetal Thymus	thymus
46	chr21:45375800-45379000	Enhancers	Stomach Smooth Muscle	stomach
47	chr21:45375800-45379800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:45376000-45378400	Enhancers	Fetal Muscle Leg	muscle
49	chr21:45376000-45378600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr21:45376400-45379200	Enhancers	Primary B cells from peripheral blood	blood

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