Variant report

Variant	esv3436984
Chromosome Location	chr21:47648374-47649822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:721)
CpG islands
(count:610)
Chromatin interactive
region (count:29)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47648482-47648637	HepG2	liver:	n/a	n/a
2	ATF3	chr21:47648698-47648964	K562	blood:	n/a	n/a
3	BACH1	chr21:47648024-47649318	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr21:47647771-47649855	K562	blood:	n/a	chr21:47649373-47649389
5	BHLHE40	chr21:47648522-47648716	HepG2	liver:	n/a	n/a
6	BHLHE40	chr21:47647803-47649349	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47648132-47649465	HepG2	liver:	n/a	chr21:47649373-47649389
8	BHLHE40	chr21:47648289-47648810	A549	lung:	n/a	n/a
9	BHLHE40	chr21:47648517-47648731	HepG2	liver:	n/a	n/a
10	BRCA1	chr21:47649132-47649205	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr21:47649138-47649326	HepG2	liver:	n/a	n/a
12	CBX3	chr21:47649044-47649411	K562	blood:	n/a	n/a
13	CCNT2	chr21:47647768-47649855	K562	blood:	n/a	chr21:47649333-47649342 chr21:47649327-47649336
14	CEBPB	chr21:47648748-47648770	K562	blood:	n/a	n/a
15	CEBPD	chr21:47649057-47649269	HepG2	liver:	n/a	n/a
16	CEBPD	chr21:47648425-47648990	HepG2	liver:	n/a	n/a
17	CHD1	chr21:47649096-47649274	GM12878	blood:	n/a	n/a
18	CHD1	chr21:47649578-47649628	GM12878	blood:	n/a	n/a
19	CHD2	chr21:47648278-47649378	GM12878	blood:	n/a	chr21:47648960-47648970
20	CHD2	chr21:47648518-47649717	H1-hESC	embryonic stem cell:	n/a	chr21:47648960-47648970
21	CHD2	chr21:47649584-47649696	GM12878	blood:	n/a	n/a
22	CHD2	chr21:47648698-47649319	K562	blood:	n/a	chr21:47648960-47648970
23	CHD2	chr21:47648427-47649546	HepG2	liver:	n/a	chr21:47648960-47648970
24	CHD2	chr21:47648318-47649558	Hela-S3	cervix:	n/a	chr21:47648960-47648970
25	CREB1	chr21:47648459-47649013	A549	lung:	n/a	n/a
26	CREB1	chr21:47649081-47649366	A549	lung:	n/a	n/a
27	CREB1	chr21:47648172-47649746	HepG2	liver:	n/a	n/a
28	CREB1	chr21:47648178-47648915	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr21:47648429-47649037	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr21:47649446-47649447	GM19239	blood:	n/a	n/a
31	CTCF	chr21:47649340-47649490	SAEC	small airway:	n/a	chr21:47649396-47649406
32	CTCF	chr21:47649100-47649250	WERI-Rb-1	eye:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
33	CTCF	chr21:47649140-47649290	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr21:47649080-47649230	GM12865	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
35	CTCF	chr21:47649080-47649230	Hela-S3	cervix:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
36	CTCF	chr21:47649055-47649202	HepG2	liver:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
37	CTCF	chr21:47649120-47649270	SAEC	small airway:	n/a	chr21:47649125-47649141 chr21:47649124-47649142
38	CTCF	chr21:47649057-47649255	LNCaP	prostate:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
39	CTCF	chr21:47649428-47649464	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:47649386-47649466	GM19240	blood:	n/a	chr21:47649396-47649406
41	CTCF	chr21:47649098-47649285	GM12878	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
42	CTCF	chr21:47649100-47649250	AG10803	skin:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
43	CTCF	chr21:47649734-47649781	GM12891	blood:	n/a	n/a
44	CTCF	chr21:47649080-47649230	AoAF	blood vessel:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
45	CTCF	chr21:47649045-47649413	MCF-7	breast:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649396-47649406 chr21:47649124-47649142
46	CTCF	chr21:47649080-47649230	HRPEpiC	eye:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
47	CTCF	chr21:47649044-47649377	H1-hESC	embryonic stem cell:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
48	CTCF	chr21:47649057-47649286	SK-N-SH_RA	brain:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
49	CTCF	chr21:47649100-47649250	AG04449	skin:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
50	CTCF	chr21:47649420-47649570	HA-sp	spinal cord:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47648535-47648585	SAEC	small airway:	n/a
2	chr21:47649172-47649222	Hepatocyte	liver:	n/a
3	chr21:47648645-47648695	AG09309	skin:	n/a
4	chr21:47649218-47649268	MCF-7	breast:	n/a
5	chr21:47648911-47648961	HRPEpiC	eye:	n/a
6	chr21:47649776-47649826	HMEC	breast:	n/a
7	chr21:47649323-47649373	U87	brain:	n/a
8	chr21:47649776-47649826	PANC-1	pancreas:	n/a
9	chr21:47649172-47649222	ECC-1	luminal epithelium:	n/a
10	chr21:47649218-47649268	NHBE	bronchial:	n/a
11	chr21:47648645-47648695	NHDF-neo	bronchial:	n/a
12	chr21:47648535-47648585	RPTEC	kidney:	n/a
13	chr21:47649323-47649373	Hepatocyte	liver:	n/a
14	chr21:47649323-47649373	SAEC	small airway:	n/a
15	chr21:47648911-47648961	HEK293	kidney:	embryo
16	chr21:47649323-47649373	AG04450	lung:	fetal
17	chr21:47648645-47648695	Hepatocyte	liver:	n/a
18	chr21:47648645-47648695	HMEC	breast:	n/a
19	chr21:47648582-47648632	GM12878	blood:	n/a
20	chr21:47648535-47648585	HL-60	blood:	n/a
21	chr21:47648908-47648958	HAEpiC	amniotic membrane:	n/a
22	chr21:47648555-47648605	AG04450	lung:	fetal
23	chr21:47649323-47649373	AG04449	skin:	fetal
24	chr21:47649776-47649826	SKMC	muscle:	n/a
25	chr21:47649172-47649222	GM12878	blood:	n/a
26	chr21:47649323-47649373	SK-N-MC	brain:	n/a
27	chr21:47648911-47648961	HRCEpiC	kidney:	n/a
28	chr21:47648555-47648605	HL-60	blood:	n/a
29	chr21:47648645-47648695	NHBE	bronchial:	n/a
30	chr21:47648535-47648585	HEEpiC	esophagus:	n/a
31	chr21:47649218-47649268	PANC-1	pancreas:	n/a
32	chr21:47649776-47649826	K562	blood:	n/a
33	chr21:47649323-47649373	HRE	kidney:	n/a
34	chr21:47649172-47649222	AoSMC	blood vessel:	n/a
35	chr21:47648555-47648605	LNCaP	prostate:	n/a
36	chr21:47649323-47649373	AG09319	gingival:	n/a
37	chr21:47649172-47649222	HRCEpiC	kidney:	n/a
38	chr21:47649776-47649826	HEK293	kidney:	embryo
39	chr21:47648645-47648695	AG04449	skin:	fetal
40	chr21:47648535-47648585	HMEC	breast:	n/a
41	chr21:47648908-47648958	ProgFib	skin:	n/a
42	chr21:47648582-47648632	HEK293	kidney:	embryo
43	chr21:47648911-47648961	SKMC	muscle:	n/a
44	chr21:47649172-47649222	HMEC	breast:	n/a
45	chr21:47649776-47649826	H1-hESC	embryonic stem cell:	embryo
46	chr21:47649218-47649268	Hepatocyte	liver:	n/a
47	chr21:47649218-47649268	PFSK-1	brain:	n/a
48	chr21:47648582-47648632	NH-A	brain:	n/a
49	chr21:47649323-47649373	ECC-1	luminal epithelium:	n/a
50	chr21:47649323-47649373	NHDF-neo	bronchial:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
2	chr21:47647891..47649801-chr21:47679065..47680838,2	K562	blood:
3	chr21:47562180..47565264-chr21:47646835..47649294,3	MCF-7	breast:
4	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
5	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
6	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
7	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:
8	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
9	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:
10	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
11	chr21:47649098..47649603-chr21:47672198..47673173,2	K562	blood:
12	chr21:47637510..47639750-chr21:47649696..47652340,2	K562	blood:
13	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
14	chr21:47646269..47649125-chr21:47743785..47746480,4	MCF-7	breast:
15	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
16	chr21:47648918..47651856-chr21:47704004..47707195,4	K562	blood:
17	chr21:47646904..47649112-chr21:47706461..47708002,3	MCF-7	breast:
18	chr21:47648325..47649130-chr21:47878619..47879226,2	K562	blood:
19	chr21:47639839..47642625-chr21:47644945..47648967,4	K562	blood:
20	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
21	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
22	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
23	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
24	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
25	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
26	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
27	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:
28	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
29	chr21:47646324..47649299-chr21:47673752..47676483,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47649154-47649180	ENSG00000215424
2	lnc-YBEY-2	chr21:47649158-47649180	NR_002776
3	lnc-YBEY-2	chr21:47649148-47649180	ENSG00000215424
4	lnc-YBEY-2	chr21:47649158-47649180	ENSG00000215424
5	lnc-YBEY-2	chr21:47649145-47649180	ENSG00000215424
6	lnc-YBEY-2	chr21:47649438-47650441	ENSG00000215424
7	lnc-YBEY-2	chr21:47649161-47649277	ENSG00000215424
8	lnc-YBEY-2	chr21:47649131-47649180	ENSG00000215424.5
9	lnc-YBEY-2	chr21:47649187-47649277	ENSG00000215424.5
10	lnc-YBEY-2	chr21:47649139-47649180	ENSG00000215424.5

No data

Variant related genes	Relation type
MCM3AP-AS1	TF binding region
LSS	TF binding region
MCM3AP-AS1	CpG island
LSS	CpG island
ENSG00000223901	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000228137	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000239415	chromatin interactions
ENSG00000237338	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375560613	chr21:47648381-47648382	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs572893842	chr21:47648390-47648391	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs199791898	chr21:47648436-47648437	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs565392079	chr21:47648438-47648439	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs369422998	chr21:47648445-47648446	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs372924541	chr21:47648465-47648466	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs529578772	chr21:47648511-47648512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs377100419	chr21:47648525-47648526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs544445311	chr21:47648552-47648553	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs562624647	chr21:47648558-47648559	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs529841039	chr21:47648569-47648570	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs34596638	chr21:47648574-47648575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs201581263	chr21:47648604-47648605	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs370233201	chr21:47648609-47648610	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs200800418	chr21:47648611-47648612	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs377762565	chr21:47648631-47648632	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs371188906	chr21:47648663-47648664	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs375787906	chr21:47648669-47648670	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs200198277	chr21:47648693-47648694	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs368321680	chr21:47648703-47648704	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs561184613	chr21:47648730-47648731	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs180685096	chr21:47648741-47648742	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs556113229	chr21:47648752-47648753	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs79638894	chr21:47648762-47648763	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs567898944	chr21:47648783-47648784	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs536390822	chr21:47648817-47648818	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs554641955	chr21:47648830-47648831	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs915803	chr21:47648872-47648873	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs540221481	chr21:47648937-47648938	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs559217609	chr21:47648953-47648954	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs371862238	chr21:47649060-47649061	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs113666655	chr21:47649079-47649080	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs576793892	chr21:47649103-47649104	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs577437864	chr21:47649134-47649135	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
35	rs544864647	chr21:47649159-47649160	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
36	rs547891525	chr21:47649172-47649173	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
37	rs567709402	chr21:47649193-47649194	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
38	rs113539818	chr21:47649220-47649221	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
39	rs530305585	chr21:47649221-47649222	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
40	rs541991137	chr21:47649233-47649234	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
41	rs144442651	chr21:47649264-47649265	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
42	rs527301760	chr21:47649286-47649287	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs551862489	chr21:47649299-47649300	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs73386543	chr21:47649302-47649303	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574835036	chr21:47649364-47649365	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs113074286	chr21:47649375-47649376	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs531542161	chr21:47649417-47649418	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs550040040	chr21:47649478-47649479	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
49	rs567962123	chr21:47649480-47649481	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
50	rs115090034	chr21:47649514-47649515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47645600-47648400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr21:47646200-47649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr21:47646600-47649600	Active TSS	NHLF	lung
4	chr21:47646600-47649800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr21:47646800-47648600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr21:47646800-47649600	Active TSS	HMEC	breast
7	chr21:47647000-47648400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:47647000-47648400	Flanking Active TSS	Liver	Liver
9	chr21:47647000-47648400	Flanking Active TSS	Placenta	Placenta
10	chr21:47647000-47649800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:47647000-47650000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr21:47647000-47650000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr21:47647000-47650200	Active TSS	Fetal Kidney	kidney
14	chr21:47647000-47650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr21:47647200-47648400	Flanking Active TSS	Fetal Thymus	thymus
16	chr21:47647200-47649600	Active TSS	Aorta	Aorta
17	chr21:47647200-47649600	Active TSS	Gastric	stomach
18	chr21:47647200-47649800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:47647200-47649800	Active TSS	NHDF-Ad	bronchial
20	chr21:47647400-47648400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr21:47647400-47648600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:47647400-47648800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:47647400-47649600	Active TSS	Primary T cells from cord blood	blood
24	chr21:47647400-47649800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:47647400-47649800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr21:47647400-47649800	Active TSS	HepG2	liver
27	chr21:47647400-47650000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:47647600-47648400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr21:47647600-47648400	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr21:47647600-47648600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr21:47647600-47649200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:47647600-47649200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr21:47647600-47649200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr21:47647600-47649200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:47647600-47649200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:47647600-47649400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr21:47647600-47649400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:47647600-47649400	Active TSS	Brain Cingulate Gyrus	brain
39	chr21:47647600-47649400	Active TSS	Colonic Mucosa	Colon
40	chr21:47647600-47649400	Active TSS	Lung	lung
41	chr21:47647600-47649400	Active TSS	Pancreas	Pancrea
42	chr21:47647600-47649400	Active TSS	Right Ventricle	heart
43	chr21:47647600-47649400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr21:47647600-47649600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr21:47647600-47649600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:47647600-47649600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:47647600-47649600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:47647600-47649600	Active TSS	Left Ventricle	heart
49	chr21:47647600-47649600	Active TSS	Ovary	ovary
50	chr21:47647600-47649600	Active TSS	Rectal Smooth Muscle	rectum

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