Variant report

Variant	esv3377874
Chromosome Location	chr21:47647774-47650272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:770)
CpG islands
(count:610)
Chromatin interactive
region (count:32)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr21:47648522-47648716	HepG2	liver:	n/a	n/a
5	BHLHE40	chr21:47648517-47648731	HepG2	liver:	n/a	n/a
6	BHLHE40	chr21:47647771-47649855	K562	blood:	n/a	chr21:47649373-47649389
7	BHLHE40	chr21:47647803-47649349	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:47648132-47649465	HepG2	liver:	n/a	chr21:47649373-47649389
9	BHLHE40	chr21:47648289-47648810	A549	lung:	n/a	n/a
10	BRCA1	chr21:47649138-47649326	HepG2	liver:	n/a	n/a
11	BRCA1	chr21:47649132-47649205	Hela-S3	cervix:	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	chr21:47648425-47648990	HepG2	liver:	n/a	n/a
16	CEBPD	chr21:47649057-47649269	HepG2	liver:	n/a	n/a
17	CHD1	chr21:47649096-47649274	GM12878	blood:	n/a	n/a
18	CHD1	chr21:47648083-47648254	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr21:47649578-47649628	GM12878	blood:	n/a	n/a
20	CHD2	chr21:47648518-47649717	H1-hESC	embryonic stem cell:	n/a	chr21:47648960-47648970
21	CHD2	chr21:47648698-47649319	K562	blood:	n/a	chr21:47648960-47648970
22	CHD2	chr21:47648318-47649558	Hela-S3	cervix:	n/a	chr21:47648960-47648970
23	CHD2	chr21:47648278-47649378	GM12878	blood:	n/a	chr21:47648960-47648970
24	CHD2	chr21:47648427-47649546	HepG2	liver:	n/a	chr21:47648960-47648970
25	CHD2	chr21:47649584-47649696	GM12878	blood:	n/a	n/a
26	CREB1	chr21:47648459-47649013	A549	lung:	n/a	n/a
27	CREB1	chr21:47649081-47649366	A549	lung:	n/a	n/a
28	CREB1	chr21:47648172-47649746	HepG2	liver:	n/a	n/a
29	CREB1	chr21:47648178-47648915	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr21:47648429-47649037	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr21:47649140-47649290	GM12873	blood:	n/a	n/a
32	CTCF	chr21:47649080-47649230	GM12868	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
33	CTCF	chr21:47649080-47649230	GM12867	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
34	CTCF	chr21:47649100-47649250	GM12874	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
35	CTCF	chr21:47649124-47649261	HUVEC	blood vessel:	n/a	chr21:47649125-47649141 chr21:47649124-47649142
36	CTCF	chr21:47649100-47649250	GM12873	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
37	CTCF	chr21:47649049-47649311	GM12891	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
38	CTCF	chr21:47649059-47649296	MCF-7	breast:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
39	CTCF	chr21:47649060-47649210	NHDF-neo	bronchial:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
40	CTCF	chr21:47648333-47648544	K562	blood:	n/a	n/a
41	CTCF	chr21:47649240-47649390	A549	lung:	n/a	n/a
42	CTCF	chr21:47649404-47649492	GM12891	blood:	n/a	n/a
43	CTCF	chr21:47649070-47649266	GM10266	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
44	CTCF	chr21:47649080-47649230	GM12872	blood:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
45	CTCF	chr21:47649060-47649210	HepG2	liver:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
46	CTCF	chr21:47649100-47649250	AG10803	skin:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
47	CTCF	chr21:47649063-47649281	NHEK	skin:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
48	CTCF	chr21:47649080-47649230	HA-sp	spinal cord:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649124-47649142
49	CTCF	chr21:47649027-47649511	A549	lung:	n/a	chr21:47649119-47649140 chr21:47649125-47649141 chr21:47649396-47649406 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	chr21:47648645-47648695	GM06990	blood:	n/a
2	chr21:47649323-47649373	Hela-S3	cervix:	n/a
3	chr21:47649172-47649222	H1-hESC	embryonic stem cell:	embryo
4	chr21:47649776-47649826	HCF	heart:	n/a
5	chr21:47648535-47648585	ovcar-3	ovarian:	n/a
6	chr21:47649776-47649826	BJ	skin:	n/a
7	chr21:47649776-47649826	HEEpiC	esophagus:	n/a
8	chr21:47648555-47648605	BE2_C	brain:	n/a
9	chr21:47648645-47648695	HRPEpiC	eye:	n/a
10	chr21:47649218-47649268	GM06990	blood:	n/a
11	chr21:47648535-47648585	Hepatocyte	liver:	n/a
12	chr21:47649323-47649373	HepG2	liver:	n/a
13	chr21:47648555-47648605	NB4	blood:	n/a
14	chr21:47648535-47648585	NHDF-neo	bronchial:	n/a
15	chr21:47648908-47648958	NT2-D1	testis:	n/a
16	chr21:47649776-47649826	ovcar-3	ovarian:	n/a
17	chr21:47648535-47648585	HPAEpiC	pulmonary alveolar:	n/a
18	chr21:47648582-47648632	GM12878	blood:	n/a
19	chr21:47648645-47648695	T-47D	breast:	n/a
20	chr21:47648582-47648632	NT2-D1	testis:	n/a
21	chr21:47648911-47648961	LNCaP	prostate:	n/a
22	chr21:47649218-47649268	SK-N-MC	brain:	n/a
23	chr21:47648535-47648585	T-47D	breast:	n/a
24	chr21:47648911-47648961	GM06990	blood:	n/a
25	chr21:47649776-47649826	MCF-7	breast:	n/a
26	chr21:47649218-47649268	GM19239	blood:	n/a
27	chr21:47648645-47648695	NHBE	bronchial:	n/a
28	chr21:47648555-47648605	RPTEC	kidney:	n/a
29	chr21:47649776-47649826	Hela-S3	cervix:	n/a
30	chr21:47648535-47648585	U87	brain:	n/a
31	chr21:47649776-47649826	U87	brain:	n/a
32	chr21:47648911-47648961	HRE	kidney:	n/a
33	chr21:47649172-47649222	HNPCEpiC	eye:	n/a
34	chr21:47648911-47648961	NT2-D1	testis:	n/a
35	chr21:47649172-47649222	AG04449	skin:	fetal
36	chr21:47648582-47648632	HPAEpiC	pulmonary alveolar:	n/a
37	chr21:47649172-47649222	LNCaP	prostate:	n/a
38	chr21:47648911-47648961	HNPCEpiC	eye:	n/a
39	chr21:47648582-47648632	Jurkat	blood:	n/a
40	chr21:47648908-47648958	GM12891	blood:	n/a
41	chr21:47649218-47649268	Hela-S3	cervix:	n/a
42	chr21:47649776-47649826	PrEC	prostate:	n/a
43	chr21:47648908-47648958	GM06990	blood:	n/a
44	chr21:47648582-47648632	SK-N-MC	brain:	n/a
45	chr21:47649172-47649222	SK-N-MC	brain:	n/a
46	chr21:47649172-47649222	Hela-S3	cervix:	n/a
47	chr21:47648535-47648585	PFSK-1	brain:	n/a
48	chr21:47648555-47648605	Jurkat	blood:	n/a
49	chr21:47649776-47649826	ECC-1	luminal epithelium:	n/a
50	chr21:47648911-47648961	MCF-7	breast:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47648381..47651139-chr21:47684651..47687035,3	MCF-7	breast:
2	chr21:47649475..47654213-chr21:47668159..47671239,4	MCF-7	breast:
3	chr21:47648918..47651856-chr21:47704004..47707195,4	K562	blood:
4	chr21:47646904..47649112-chr21:47706461..47708002,3	MCF-7	breast:
5	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
6	chr21:47649098..47649603-chr21:47672198..47673173,2	K562	blood:
7	chr21:47646324..47649299-chr21:47673752..47676483,2	K562	blood:
8	chr21:47637510..47639750-chr21:47649696..47652340,2	K562	blood:
9	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:
10	chr21:47649909..47652487-chr21:47692841..47694788,2	K562	blood:
11	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
12	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
13	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
14	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
15	chr21:47648325..47649130-chr21:47878619..47879226,2	K562	blood:
16	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
17	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
18	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
19	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
20	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
21	chr21:47647891..47649801-chr21:47679065..47680838,2	K562	blood:
22	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
23	chr21:47646765..47648918-chr21:47650185..47652427,3	MCF-7	breast:
24	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
25	chr21:47639839..47642625-chr21:47644945..47648967,4	K562	blood:
26	chr21:47646269..47649125-chr21:47743785..47746480,4	MCF-7	breast:
27	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
28	chr21:47602595..47605401-chr21:47649000..47651929,3	K562	blood:
29	chr21:47646455..47648066-chr21:47714633..47716764,2	MCF-7	breast:
30	chr21:47562180..47565264-chr21:47646835..47649294,3	MCF-7	breast:
31	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
32	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YBEY-2	chr21:47649161-47649277	ENSG00000215424
2	lnc-YBEY-2	chr21:47649187-47649277	ENSG00000215424.5
3	lnc-YBEY-2	chr21:47649148-47649180	ENSG00000215424
4	lnc-YBEY-2	chr21:47649145-47649180	ENSG00000215424
5	lnc-YBEY-2	chr21:47649438-47650441	ENSG00000215424
6	lnc-YBEY-2	chr21:47649154-47649180	ENSG00000215424
7	lnc-YBEY-2	chr21:47649158-47649180	ENSG00000215424
8	lnc-YBEY-2	chr21:47649131-47649180	ENSG00000215424.5
9	lnc-YBEY-2	chr21:47649158-47649180	NR_002776
10	lnc-YBEY-2	chr21:47649139-47649180	ENSG00000215424.5
11	lnc-YBEY-2	chr21:47650241-47650441	ENSG00000215424

No data

Variant related genes	Relation type
MCM3AP-AS1	TF binding region
LSS	TF binding region
MCM3AP-AS1	CpG island
LSS	CpG island
ENSG00000160285	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000239415	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000228137	chromatin interactions
ENSG00000223901	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000237338	chromatin interactions
ENSG00000160305	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184298504	chr21:47647787-47647788	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs558263803	chr21:47647917-47647918	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs542580700	chr21:47647945-47647946	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs561268622	chr21:47647974-47647975	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs190518931	chr21:47647980-47647981	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs80273381	chr21:47647997-47647998	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs78920943	chr21:47647998-47647999	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs113065106	chr21:47648044-47648045	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs116189082	chr21:47648047-47648048	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs552383071	chr21:47648101-47648102	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs114900297	chr21:47648103-47648104	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs548177398	chr21:47648108-47648109	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs3817724	chr21:47648142-47648143	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs182291212	chr21:47648154-47648155	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs185425590	chr21:47648158-47648159	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs565553822	chr21:47648163-47648164	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs111890900	chr21:47648185-47648186	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs76143690	chr21:47648188-47648189	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs576973107	chr21:47648218-47648219	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
20	rs75083277	chr21:47648224-47648225	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
21	rs578154773	chr21:47648227-47648228	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
22	rs189497555	chr21:47648248-47648249	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
23	rs557446427	chr21:47648251-47648252	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
24	rs575309687	chr21:47648267-47648268	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
25	rs542690768	chr21:47648311-47648312	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
26	rs560980604	chr21:47648316-47648317	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
27	rs563874256	chr21:47648354-47648355	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
28	rs373275028	chr21:47648370-47648371	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47645600-47648400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr21:47645800-47647800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr21:47645800-47647800	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr21:47646000-47648000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:47646200-47647800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr21:47646200-47647800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:47646200-47647800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr21:47646200-47647800	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr21:47646200-47647800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr21:47646200-47647800	Enhancers	Fetal Lung	lung
11	chr21:47646200-47647800	Enhancers	Spleen	Spleen
12	chr21:47646200-47648000	Flanking Active TSS	Fetal Brain Female	brain
13	chr21:47646200-47648000	Flanking Active TSS	HUVEC	blood vessel
14	chr21:47646200-47648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:47646200-47649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr21:47646400-47647800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:47646600-47647800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:47646600-47648000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:47646600-47648200	Flanking Active TSS	Dnd41	blood
20	chr21:47646600-47649600	Active TSS	NHLF	lung
21	chr21:47646600-47649800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr21:47646800-47647800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:47646800-47647800	Enhancers	Small Intestine	intestine
24	chr21:47646800-47648000	Flanking Active TSS	Fetal Heart	heart
25	chr21:47646800-47648600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr21:47646800-47649600	Active TSS	HMEC	breast
27	chr21:47647000-47647800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr21:47647000-47647800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr21:47647000-47647800	Enhancers	Primary B cells from cord blood	blood
30	chr21:47647000-47647800	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:47647000-47647800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr21:47647000-47647800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:47647000-47647800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr21:47647000-47647800	Flanking Active TSS	Fetal Brain Male	brain
35	chr21:47647000-47647800	Enhancers	Fetal Intestine Large	intestine
36	chr21:47647000-47648000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:47647000-47648000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr21:47647000-47648000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr21:47647000-47648000	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr21:47647000-47648000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr21:47647000-47648000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr21:47647000-47648000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr21:47647000-47648000	Flanking Active TSS	NH-A	brain
44	chr21:47647000-47648000	Flanking Active TSS	Osteobl	bone
45	chr21:47647000-47648400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:47647000-47648400	Flanking Active TSS	Liver	Liver
47	chr21:47647000-47648400	Flanking Active TSS	Placenta	Placenta
48	chr21:47647000-47649800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr21:47647000-47650000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr21:47647000-47650000	Active TSS	Pancreatic Islets	Pancreatic Islet

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