Variant report

Variant	esv3360464
Chromosome Location	chr21:45431274-45433672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:752)
CpG islands
(count:305)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:752 , 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	chr21:45432057-45432235	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45432529-45432982	K562	blood:	n/a	n/a
3	ARID3A	chr21:45432494-45432711	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:45432003-45432162	K562	blood:	n/a	n/a
5	ATF1	chr21:45431933-45432373	K562	blood:	n/a	chr21:45432356-45432370
6	ATF2	chr21:45431870-45432271	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45433221-45433908	GM12878	blood:	n/a	n/a
8	ATF3	chr21:45431968-45432313	K562	blood:	n/a	n/a
9	ATF3	chr21:45432061-45432341	HepG2	liver:	n/a	n/a
10	ATF3	chr21:45432077-45432304	GM12878	blood:	n/a	n/a
11	ATF3	chr21:45431921-45432365	GM12878	blood:	n/a	n/a
12	ATF3	chr21:45432062-45432245	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr21:45432707-45432714	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr21:45431757-45432238	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr21:45431968-45432128	K562	blood:	n/a	n/a
16	BCLAF1	chr21:45432424-45433101	GM12878	blood:	n/a	n/a
17	BCLAF1	chr21:45432432-45433130	GM12878	blood:	n/a	n/a
18	BCLAF1	chr21:45431471-45432390	GM12878	blood:	n/a	chr21:45432199-45432208 chr21:45431892-45431905 chr21:45432185-45432194
19	BCLAF1	chr21:45433615-45434059	GM12878	blood:	n/a	chr21:45433825-45433834
20	BHLHE40	chr21:45431752-45432247	GM12878	blood:	n/a	chr21:45432212-45432228 chr21:45432225-45432241 chr21:45431869-45431885 chr21:45432217-45432233 chr21:45431861-45431877
21	BHLHE40	chr21:45431637-45432237	K562	blood:	n/a	chr21:45432212-45432228 chr21:45431869-45431885 chr21:45432217-45432233 chr21:45431861-45431877
22	BHLHE40	chr21:45432551-45432949	GM12878	blood:	n/a	n/a
23	BHLHE40	chr21:45432444-45432830	K562	blood:	n/a	n/a
24	BHLHE40	chr21:45433533-45433733	GM12878	blood:	n/a	n/a
25	BRCA1	chr21:45432056-45432125	HepG2	liver:	n/a	n/a
26	BRCA1	chr21:45431978-45432127	GM12878	blood:	n/a	n/a
27	BRCA1	chr21:45431979-45432209	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr21:45432418-45433200	K562	blood:	n/a	n/a
29	CBX3	chr21:45431574-45432246	K562	blood:	n/a	n/a
30	CCNT2	chr21:45431689-45433109	K562	blood:	n/a	n/a
31	CEBPB	chr21:45433219-45433586	Hela-S3	cervix:	n/a	chr21:45433386-45433397 chr21:45433388-45433399
32	CEBPB	chr21:45431941-45432213	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr21:45432910-45433548	K562	blood:	n/a	chr21:45433386-45433397 chr21:45433388-45433399
34	CEBPB	chr21:45433275-45433470	IMR90	lung:	n/a	chr21:45433386-45433397 chr21:45433388-45433399
35	CEBPB	chr21:45433245-45433540	HepG2	liver:	n/a	chr21:45433386-45433397 chr21:45433388-45433399
36	CEBPB	chr21:45432515-45432704	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPD	chr21:45432571-45432857	HepG2	liver:	n/a	n/a
38	CEBPD	chr21:45431781-45432124	HepG2	liver:	n/a	n/a
39	CHD1	chr21:45431808-45433114	GM12878	blood:	n/a	n/a
40	CHD1	chr21:45432845-45433283	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr21:45431509-45433574	IMR90	lung:	n/a	chr21:45431649-45431659
42	CHD2	chr21:45431762-45432746	GM12878	blood:	n/a	n/a
43	CHD2	chr21:45431632-45432745	K562	blood:	n/a	chr21:45431649-45431659
44	CHD2	chr21:45432034-45432234	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr21:45432973-45433060	K562	blood:	n/a	n/a
46	CHD2	chr21:45432527-45432960	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr21:45431443-45433081	Hela-S3	cervix:	n/a	chr21:45431649-45431659
48	CHD2	chr21:45432538-45432915	HepG2	liver:	n/a	n/a
49	CHD2	chr21:45431981-45432279	HepG2	liver:	n/a	n/a
50	CREB1	chr21:45431780-45433109	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45432451-45432501	HCT-116	colon:	n/a
2	chr21:45433058-45433108	SK-N-SH	brain:	n/a
3	chr21:45432403-45432453	HMEC	breast:	n/a
4	chr21:45432889-45432939	NB4	blood:	n/a
5	chr21:45433058-45433108	AG04449	skin:	fetal
6	chr21:45432889-45432939	NHDF-neo	bronchial:	n/a
7	chr21:45431669-45431719	RPTEC	kidney:	n/a
8	chr21:45432403-45432453	HCF	heart:	n/a
9	chr21:45432451-45432501	HL-60	blood:	n/a
10	chr21:45432403-45432453	Jurkat	blood:	n/a
11	chr21:45432403-45432453	HAEpiC	amniotic membrane:	n/a
12	chr21:45432403-45432453	PrEC	prostate:	n/a
13	chr21:45431669-45431719	HCT-116	colon:	n/a
14	chr21:45433058-45433108	HNPCEpiC	eye:	n/a
15	chr21:45431669-45431719	HPAEpiC	pulmonary alveolar:	n/a
16	chr21:45432403-45432453	HL-60	blood:	n/a
17	chr21:45432403-45432453	GM19239	blood:	n/a
18	chr21:45433058-45433108	Jurkat	blood:	n/a
19	chr21:45432403-45432453	A549	lung:	n/a
20	chr21:45432889-45432939	Caco-2	colon:	n/a
21	chr21:45432451-45432501	AG04449	skin:	fetal
22	chr21:45432889-45432939	GM06990	blood:	n/a
23	chr21:45432403-45432453	ECC-1	luminal epithelium:	n/a
24	chr21:45431669-45431719	HEK293	kidney:	embryo
25	chr21:45432403-45432453	HCT-116	colon:	n/a
26	chr21:45431669-45431719	NB4	blood:	n/a
27	chr21:45432889-45432939	SAEC	small airway:	n/a
28	chr21:45432451-45432501	CMK	blood:	n/a
29	chr21:45432451-45432501	HEEpiC	esophagus:	n/a
30	chr21:45433058-45433108	A549	lung:	n/a
31	chr21:45433058-45433108	NHBE	bronchial:	n/a
32	chr21:45433058-45433108	HCPEpiC	choroid plexus:	n/a
33	chr21:45432451-45432501	BE2_C	brain:	n/a
34	chr21:45432403-45432453	NB4	blood:	n/a
35	chr21:45432403-45432453	NT2-D1	testis:	n/a
36	chr21:45432889-45432939	HepG2	liver:	n/a
37	chr21:45431669-45431719	Hepatocyte	liver:	n/a
38	chr21:45433058-45433108	Hepatocyte	liver:	n/a
39	chr21:45433058-45433108	PrEC	prostate:	n/a
40	chr21:45432403-45432453	HCPEpiC	choroid plexus:	n/a
41	chr21:45432451-45432501	PFSK-1	brain:	n/a
42	chr21:45431669-45431719	MCF-7	breast:	n/a
43	chr21:45432889-45432939	HNPCEpiC	eye:	n/a
44	chr21:45433058-45433108	HMEC	breast:	n/a
45	chr21:45432403-45432453	SK-N-SH_RA	brain:	n/a
46	chr21:45433058-45433108	SK-N-SH_RA	brain:	n/a
47	chr21:45431669-45431719	AG09309	skin:	n/a
48	chr21:45433058-45433108	AG09309	skin:	n/a
49	chr21:45431669-45431719	HEEpiC	esophagus:	n/a
50	chr21:45432889-45432939	HCM	heart:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
2	chr20:49406551..49408394-chr21:45432299..45433815,2	MCF-7	breast:
3	chr21:45432277..45433979-chr21:45497915..45499454,2	K562	blood:
4	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
5	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
6	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
7	chr21:45187143..45189107-chr21:45429990..45432008,2	K562	blood:
8	chr21:45340959..45342900-chr21:45429415..45431633,2	K562	blood:
9	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
10	chr21:45431673..45432633-chr5:10353216..10354079,2	Hela-S3	cervix:
11	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
12	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
13	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:
14	chr21:45429269..45431828-chr21:45486431..45488648,2	MCF-7	breast:
15	chr17:62971538..62972281-chr21:45431721..45432503,2	Hela-S3	cervix:
16	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
17	chr21:45399246..45402021-chr21:45429324..45431485,3	MCF-7	breast:
18	chr21:45328589..45330821-chr21:45430342..45432197,2	K562	blood:
19	chr17:48943259..48944005-chr21:45431937..45432566,2	Hela-S3	cervix:
20	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
21	chr21:45429046..45431899-chr21:45510493..45513576,3	K562	blood:
22	chr21:45207900..45209521-chr21:45431429..45433903,2	MCF-7	breast:
23	chr21:37441962..37442618-chr21:45431913..45432480,2	Hela-S3	cervix:
24	chr20:49411572..49412122-chr21:45432313..45432833,2	MCF-7	breast:
25	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
26	chr21:45411686..45414596-chr21:45429639..45431651,4	K562	blood:
27	chr21:45400066..45403685-chr21:45432405..45434021,3	MCF-7	breast:
28	chr20:60877447..60878118-chr21:45431566..45432541,2	Hela-S3	cervix:
29	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
30	chr1:167905439..167906059-chr21:45431832..45432556,2	Hela-S3	cervix:
31	chr17:56708016..56709699-chr21:45432044..45433647,2	MCF-7	breast:
32	chr21:45432311..45434662-chr21:45470417..45472446,3	K562	blood:
33	chr21:45334132..45335673-chr21:45433559..45435082,2	K562	blood:
34	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
35	chr17:56736345..56737039-chr21:45432050..45432587,2	Hela-S3	cervix:
36	chr21:45416695..45418869-chr21:45430273..45432028,2	K562	blood:
37	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
38	chr21:45432401..45434388-chr21:45557544..45559528,2	K562	blood:
39	chr1:23885346..23886319-chr21:45431568..45432074,2	Hela-S3	cervix:
40	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
41	chr21:45432713..45434258-chr21:45470082..45471621,2	MCF-7	breast:
42	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
43	chr21:45431683..45433635-chr21:45552005..45554023,2	K562	blood:
44	chr21:45419220..45421707-chr21:45432481..45434970,2	MCF-7	breast:
45	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
46	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
47	chr21:45407342..45409027-chr21:45430207..45431871,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
TRAPPC10	CpG island
ENSG00000160221	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000259802	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000215458	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000214174	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000145495	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000160209	chromatin interactions
ENSG00000159228	chromatin interactions
ENSG00000130706	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000160214	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000143158	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186706521	chr21:45431279-45431280	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs4819365	chr21:45431302-45431303	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs546757952	chr21:45431325-45431326	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs367880680	chr21:45431342-45431343	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs540680606	chr21:45431360-45431361	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs571258243	chr21:45431362-45431363	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs559072169	chr21:45431417-45431418	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs532095749	chr21:45431444-45431445	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs138627379	chr21:45431453-45431454	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs113692677	chr21:45431463-45431464	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs191165411	chr21:45431481-45431482	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs563983707	chr21:45431507-45431508	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs8128308	chr21:45431554-45431555	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs76417535	chr21:45431646-45431647	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs148908362	chr21:45431661-45431662	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs78915176	chr21:45431686-45431687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs79358202	chr21:45431688-45431689	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs547111976	chr21:45431697-45431698	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs571808514	chr21:45431704-45431705	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs182633165	chr21:45431725-45431726	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs551259651	chr21:45431733-45431734	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs569849333	chr21:45431756-45431757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs374489049	chr21:45431763-45431764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs536907679	chr21:45431899-45431900	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs555245655	chr21:45431991-45431992	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs573301198	chr21:45431994-45431995	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs148082613	chr21:45432021-45432022	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs552636731	chr21:45432055-45432056	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs374119452	chr21:45432059-45432060	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs375246379	chr21:45432071-45432072	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs545109001	chr21:45432075-45432076	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs563696069	chr21:45432112-45432113	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs562920168	chr21:45432117-45432118	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs543294172	chr21:45432121-45432122	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs561614089	chr21:45432129-45432130	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs528485284	chr21:45432131-45432132	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs143876131	chr21:45432163-45432164	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs565356770	chr21:45432189-45432190	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs531468702	chr21:45432223-45432224	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs532466663	chr21:45432281-45432282	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs188074462	chr21:45432290-45432291	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs1051966	chr21:45432338-45432339	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
43	rs1051967	chr21:45432340-45432341	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
44	rs1051968	chr21:45432347-45432348	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs113992464	chr21:45432354-45432355	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs201880764	chr21:45432394-45432395	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs375296826	chr21:45432410-45432411	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs551064836	chr21:45432440-45432441	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs369037945	chr21:45432449-45432450	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs373359114	chr21:45432451-45432452	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	20 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:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45426400-45431600	Weak transcription	Lung	lung
2	chr21:45429200-45431400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:45429200-45431400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:45430000-45431400	Flanking Active TSS	HepG2	liver
6	chr21:45430200-45431400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr21:45430400-45431400	Enhancers	Right Ventricle	heart
8	chr21:45430600-45431400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:45430600-45431400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr21:45430600-45431400	Enhancers	Placenta	Placenta
11	chr21:45430800-45431400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:45430800-45431400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr21:45430800-45431400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45430800-45431400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:45430800-45431400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:45430800-45431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:45430800-45431400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:45430800-45431400	Flanking Active TSS	Dnd41	blood
19	chr21:45430800-45431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:45430800-45431800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:45431000-45431400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr21:45431000-45431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45431000-45431400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:45431000-45431400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:45431000-45431400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr21:45431000-45431400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr21:45431000-45431400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:45431000-45431400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:45431000-45431400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45431000-45431400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr21:45431000-45431400	Enhancers	Primary B cells from peripheral blood	blood
32	chr21:45431000-45431400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:45431000-45431400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr21:45431000-45431400	Enhancers	Brain Angular Gyrus	brain
35	chr21:45431000-45431400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr21:45431000-45431400	Enhancers	Brain Substantia Nigra	brain
37	chr21:45431000-45431400	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:45431000-45431400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr21:45431000-45431400	Flanking Active TSS	Fetal Brain Female	brain
40	chr21:45431000-45431400	Enhancers	Fetal Thymus	thymus
41	chr21:45431000-45431400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr21:45431000-45431400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr21:45431000-45431400	Flanking Active TSS	Thymus	Thymus
44	chr21:45431000-45431400	Flanking Active TSS	GM12878-XiMat	blood
45	chr21:45431000-45431400	Flanking Active TSS	Hela-S3	cervix
46	chr21:45431000-45431400	Flanking Active TSS	HSMM	muscle
47	chr21:45431000-45431400	Flanking Active TSS	K562	blood
48	chr21:45431000-45431600	Enhancers	Primary T cells from cord blood	blood
49	chr21:45431000-45431600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr21:45431000-45431600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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