Variant report

Variant	esv3337772
Chromosome Location	chr21:47877824-47880672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:702)
CpG islands
(count:489)
Chromatin interactive
region (count:42)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:702 , 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	chr21:47878341-47878973	K562	blood:	n/a	n/a
2	ARID3A	chr21:47878385-47878720	HepG2	liver:	n/a	n/a
3	ATF1	chr21:47878081-47878819	K562	blood:	n/a	n/a
4	ATF2	chr21:47878139-47878531	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr21:47878340-47878735	GM12878	blood:	n/a	n/a
6	ATF3	chr21:47878278-47878895	K562	blood:	n/a	chr21:47878846-47878855
7	BACH1	chr21:47877665-47878479	K562	blood:	n/a	n/a
8	BACH1	chr21:47877674-47879023	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr21:47878196-47878751	GM12878	blood:	n/a	chr21:47878729-47878742
10	BCLAF1	chr21:47877842-47878751	GM12878	blood:	n/a	chr21:47878729-47878742
11	BHLHE40	chr21:47878012-47878958	HepG2	liver:	n/a	chr21:47878832-47878848
12	BHLHE40	chr21:47878225-47879080	GM12878	blood:	n/a	chr21:47878832-47878848
13	BHLHE40	chr21:47877555-47879097	K562	blood:	n/a	chr21:47878832-47878848
14	BHLHE40	chr21:47879784-47879916	K562	blood:	n/a	n/a
15	BRCA1	chr21:47878437-47878613	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr21:47878945-47879031	GM12878	blood:	n/a	n/a
17	BRCA1	chr21:47877641-47879062	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr21:47878223-47878527	HepG2	liver:	n/a	n/a
19	CBX3	chr21:47878210-47878660	K562	blood:	n/a	n/a
20	CBX3	chr21:47877583-47878776	K562	blood:	n/a	n/a
21	CCNT2	chr21:47877968-47879156	K562	blood:	n/a	n/a
22	CCNT2	chr21:47879552-47879733	K562	blood:	n/a	n/a
23	CEBPB	chr21:47877645-47879042	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr21:47878200-47878706	K562	blood:	n/a	n/a
25	CEBPB	chr21:47878367-47878672	K562	blood:	n/a	n/a
26	CEBPB	chr21:47878967-47878993	K562	blood:	n/a	n/a
27	CEBPB	chr21:47878348-47878530	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPD	chr21:47878207-47878761	HepG2	liver:	n/a	n/a
29	CEBPD	chr21:47877943-47878744	K562	blood:	n/a	n/a
30	CHD1	chr21:47877768-47879162	GM12878	blood:	n/a	n/a
31	CHD2	chr21:47877997-47879097	GM12878	blood:	n/a	n/a
32	CHD2	chr21:47877821-47879032	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr21:47879821-47879941	K562	blood:	n/a	n/a
34	CHD2	chr21:47877822-47878994	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr21:47877873-47878769	HepG2	liver:	n/a	n/a
36	CHD2	chr21:47877734-47879057	K562	blood:	n/a	n/a
37	CREB1	chr21:47878338-47879144	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr21:47878515-47878787	A549	lung:	n/a	n/a
39	CREB1	chr21:47878394-47878836	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr21:47877684-47879259	HepG2	liver:	n/a	n/a
41	CREB1	chr21:47878313-47879097	A549	lung:	n/a	n/a
42	CREB1	chr21:47878217-47879190	GM12878	blood:	n/a	n/a
43	CREB1	chr21:47877712-47879166	K562	blood:	n/a	n/a
44	CTBP2	chr21:47878402-47879046	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr21:47878540-47878690	AG04449	skin:	n/a	n/a
46	CTCF	chr21:47878486-47878549	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:47878360-47878510	GM12867	blood:	n/a	n/a
48	CTCF	chr21:47878900-47879050	AG04449	skin:	n/a	n/a
49	CTCF	chr21:47878232-47878671	K562	blood:	n/a	n/a
50	CTCF	chr21:47878900-47879050	GM12868	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47878746-47878796	Hela-S3	cervix:	n/a
2	chr21:47878746-47878796	Hela-S3	cervix:	n/a
3	chr21:47878281-47878331	ProgFib	skin:	n/a
4	chr21:47878975-47879025	HCPEpiC	choroid plexus:	n/a
5	chr21:47878746-47878796	PFSK-1	brain:	n/a
6	chr21:47878746-47878796	ProgFib	skin:	n/a
7	chr21:47879272-47879322	Caco-2	colon:	n/a
8	chr21:47878975-47879025	ECC-1	luminal epithelium:	n/a
9	chr21:47878969-47879019	K562	blood:	n/a
10	chr21:47878727-47878777	HAEpiC	amniotic membrane:	n/a
11	chr21:47878969-47879019	Caco-2	colon:	n/a
12	chr21:47878969-47879019	MCF10A-Er-Src	breast:	n/a
13	chr21:47879575-47879625	AG10803	skin:	n/a
14	chr21:47878727-47878777	AG09309	skin:	n/a
15	chr21:47878281-47878331	PANC-1	pancreas:	n/a
16	chr21:47879272-47879322	ovcar-3	ovarian:	n/a
17	chr21:47878281-47878331	MCF-7	breast:	n/a
18	chr21:47878552-47878602	HCT-116	colon:	n/a
19	chr21:47879575-47879625	GM12878	blood:	n/a
20	chr21:47878975-47879025	ovcar-3	ovarian:	n/a
21	chr21:47878281-47878331	Hela-S3	cervix:	n/a
22	chr21:47879272-47879322	SAEC	small airway:	n/a
23	chr21:47878746-47878796	GM12878	blood:	n/a
24	chr21:47879272-47879322	AG04449	skin:	fetal
25	chr21:47878727-47878777	HNPCEpiC	eye:	n/a
26	chr21:47878727-47878777	H1-hESC	embryonic stem cell:	embryo
27	chr21:47878746-47878796	AG09309	skin:	n/a
28	chr21:47878746-47878796	GM19239	blood:	n/a
29	chr21:47878552-47878602	NT2-D1	testis:	n/a
30	chr21:47878969-47879019	AG04449	skin:	fetal
31	chr21:47878975-47879025	GM19239	blood:	n/a
32	chr21:47878969-47879019	AG10803	skin:	n/a
33	chr21:47878552-47878602	SK-N-SH_RA	brain:	n/a
34	chr21:47878975-47879025	AoSMC	blood vessel:	n/a
35	chr21:47879272-47879322	HCPEpiC	choroid plexus:	n/a
36	chr21:47878975-47879025	MCF10A-Er-Src	breast:	n/a
37	chr21:47878746-47878796	LNCaP	prostate:	n/a
38	chr21:47878552-47878602	HUVEC	blood vessel:	n/a
39	chr21:47878727-47878777	HCF	heart:	n/a
40	chr21:47879575-47879625	SK-N-SH	brain:	n/a
41	chr21:47878975-47879025	A549	lung:	n/a
42	chr21:47878281-47878331	SK-N-SH_RA	brain:	n/a
43	chr21:47879575-47879625	HCF	heart:	n/a
44	chr21:47879575-47879625	PANC-1	pancreas:	n/a
45	chr21:47878552-47878602	MCF-7	breast:	n/a
46	chr21:47878552-47878602	PrEC	prostate:	n/a
47	chr21:47878727-47878777	IMR90	lung:	fetal
48	chr21:47878552-47878602	RPTEC	kidney:	n/a
49	chr21:47878969-47879019	Jurkat	blood:	n/a
50	chr21:47878552-47878602	PANC-1	pancreas:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47798424..47800527-chr21:47877024..47878528,2	MCF-7	breast:
2	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
3	chr21:47706221..47707965-chr21:47878068..47881386,3	K562	blood:
4	chr21:47840925..47844156-chr21:47876600..47878720,3	MCF-7	breast:
5	chr21:47876838..47878694-chr21:47950726..47952236,2	K562	blood:
6	chr21:47843264..47847636-chr21:47874814..47878644,6	K562	blood:
7	chr17:58154842..58157116-chr21:47876482..47878342,2	MCF-7	breast:
8	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
9	chr21:47703795..47706466-chr21:47875167..47877957,2	K562	blood:
10	chr21:47877844..47879584-chr6:47445419..47446944,2	MCF-7	breast:
11	chr21:47879656..47881987-chr21:47889177..47890960,2	MCF-7	breast:
12	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
13	chr12:14923341..14924310-chr21:47877937..47878882,2	Hela-S3	cervix:
14	chr17:72869660..72870193-chr21:47878133..47878650,2	Hela-S3	cervix:
15	chr17:57921537..57925513-chr21:47876812..47880311,4	MCF-7	breast:
16	chr19:44116910..44119168-chr21:47876840..47878656,2	MCF-7	breast:
17	chr21:47877850..47878566-chr3:111577924..111578506,2	Hela-S3	cervix:
18	chr21:47858462..47860394-chr21:47879147..47880997,2	MCF-7	breast:
19	chr21:47877902..47878564-chr8:71314970..71315639,2	Hela-S3	cervix:
20	chr21:47811625..47813583-chr21:47876546..47878420,2	K562	blood:
21	chr14:75745162..75745662-chr21:47878134..47878672,2	Hela-S3	cervix:
22	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
23	chr1:25071110..25072026-chr21:47878008..47878592,2	Hela-S3	cervix:
24	chr21:47743254..47746166-chr21:47876901..47880445,4	MCF-7	breast:
25	chr21:47743042..47745765-chr21:47875975..47879914,6	MCF-7	breast:
26	chr16:31470747..31471310-chr21:47878393..47879297,2	Hela-S3	cervix:
27	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
28	chr21:47879910..47881724-chr21:47920617..47924797,3	K562	blood:
29	chr21:47705757..47707649-chr21:47877566..47879114,2	MCF-7	breast:
30	chr21:47743331..47747569-chr21:47874488..47878501,6	K562	blood:
31	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
32	chr15:74753422..74754147-chr21:47878066..47878650,2	Hela-S3	cervix:
33	chr21:47839369..47841083-chr21:47878532..47880064,2	K562	blood:
34	chr21:47876681..47878399-chr21:47975254..47977568,2	MCF-7	breast:
35	chr21:47876440..47878945-chr21:47970776..47973767,2	MCF-7	breast:
36	chr21:47648325..47649130-chr21:47878619..47879226,2	K562	blood:
37	chr21:47857857..47859725-chr21:47876652..47878543,2	MCF-7	breast:
38	chr21:47742824..47746367-chr21:47874951..47878920,7	K562	blood:
39	chr21:47740603..47742820-chr21:47877122..47879143,2	K562	blood:
40	chr21:47639323..47641508-chr21:47879024..47881708,2	MCF-7	breast:
41	chr12:131354963..131357052-chr21:47877040..47878666,2	MCF-7	breast:
42	chr21:47863005..47865990-chr21:47875934..47878581,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf58-1	chr21:47877997-47878593	ENSG00000245754
2	lnc-C21orf58-1	chr21:47871407-47878519	NONHSAT083070

No data

Variant related genes	Relation type
DIP2A-IT1	TF binding region
DIP2A	TF binding region
DIP2A-IT1	CpG island
DIP2A	CpG island
ENSG00000198087	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000223901	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000169504	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000247240	chromatin interactions
ENSG00000132341	chromatin interactions
ENSG00000144824	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000225043	chromatin interactions
ENSG00000138629	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000260267	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000170345	chromatin interactions
GABARAPL1	miRNA target sites
B3GNT5	miRNA target sites

Extended variants
information (count: 96 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553937375	chr21:47877873-47877874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
2	rs137978035	chr21:47877883-47877884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
3	rs549927221	chr21:47877903-47877904	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
4	rs142701643	chr21:47877929-47877930	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
5	rs146024779	chr21:47877954-47877955	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
6	rs543800386	chr21:47878008-47878009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
7	rs561985463	chr21:47878025-47878026	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
8	rs34736293	chr21:47878043-47878044	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs187238289	chr21:47878072-47878073	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
10	rs529537798	chr21:47878081-47878082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
11	rs559567123	chr21:47878083-47878084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
12	rs576041179	chr21:47878104-47878105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
13	rs111819719	chr21:47878106-47878107	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
14	rs151289790	chr21:47878133-47878134	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
15	rs533185345	chr21:47878155-47878156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
16	rs551667065	chr21:47878157-47878158	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
17	rs191685817	chr21:47878160-47878161	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
18	rs35121687	chr21:47878164-47878165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
19	rs73909539	chr21:47878307-47878308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530381392	chr21:47878317-47878318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
21	rs138832532	chr21:47878369-47878370	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
22	rs567193059	chr21:47878376-47878377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
23	rs534399705	chr21:47878400-47878401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
24	rs76833645	chr21:47878420-47878421	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	mRNA abundance
25	rs565899067	chr21:47878432-47878433	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
26	rs539651400	chr21:47878437-47878438	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
27	rs77838834	chr21:47878504-47878505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
28	rs76402419	chr21:47878509-47878510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
29	rs80313491	chr21:47878523-47878524	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	mRNA abundance
30	rs555716395	chr21:47878567-47878568	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
31	rs544329373	chr21:47878582-47878583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
32	rs541510385	chr21:47878611-47878612	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs116741886	chr21:47878671-47878672	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs368304662	chr21:47878682-47878683	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs533120499	chr21:47878705-47878706	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs552642128	chr21:47878720-47878721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs564033536	chr21:47878740-47878741	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs189830897	chr21:47878742-47878743	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs563385325	chr21:47878785-47878786	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs553809320	chr21:47878804-47878805	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs193293674	chr21:47878815-47878816	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs549043610	chr21:47878827-47878828	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs566892296	chr21:47878879-47878880	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs528089696	chr21:47878886-47878887	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs11701121	chr21:47878892-47878893	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114484890	chr21:47878985-47878986	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs538393904	chr21:47879004-47879005	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs558320979	chr21:47879105-47879106	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs570187613	chr21:47879144-47879145	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs372817638	chr21:47879156-47879157	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	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:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47875800-47878000	Flanking Active TSS	Fetal Heart	heart
2	chr21:47875800-47878600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr21:47876800-47878000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr21:47876800-47878000	Flanking Active TSS	Dnd41	blood
5	chr21:47877000-47878000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47877000-47878000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr21:47877000-47878400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr21:47877000-47878400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:47877200-47878000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:47877200-47878000	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr21:47877200-47878000	Flanking Active TSS	Fetal Brain Female	brain
12	chr21:47877200-47878000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr21:47877200-47878000	Flanking Active TSS	HMEC	breast
14	chr21:47877200-47878000	Transcr. at gene 5' and 3'	K562	blood
15	chr21:47877200-47878200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:47877200-47878200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr21:47877200-47878200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr21:47877200-47878400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:47877200-47878600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:47877200-47879800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr21:47877200-47880200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr21:47877200-47880200	Active TSS	A549	lung
23	chr21:47877200-47880400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr21:47877400-47878000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:47877400-47878000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:47877400-47878000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr21:47877400-47878000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr21:47877400-47878000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr21:47877400-47878000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr21:47877400-47878000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr21:47877400-47878000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:47877400-47878000	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr21:47877400-47878000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr21:47877400-47878000	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr21:47877400-47878000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr21:47877400-47878000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:47877400-47878000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr21:47877400-47878000	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr21:47877400-47878000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr21:47877400-47878000	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr21:47877400-47878000	Flanking Active TSS	Fetal Lung	lung
42	chr21:47877400-47878000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr21:47877400-47878000	Flanking Active TSS	Fetal Stomach	stomach
44	chr21:47877400-47878000	Flanking Active TSS	Fetal Thymus	thymus
45	chr21:47877400-47878000	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr21:47877400-47878000	Flanking Active TSS	Stomach Mucosa	stomach
47	chr21:47877400-47878000	Flanking Active TSS	Thymus	Thymus
48	chr21:47877400-47878000	Flanking Active TSS	HSMM	muscle
49	chr21:47877400-47878000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr21:47877400-47878000	Flanking Active TSS	NHEK	skin

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