Variant report

Variant	esv3439649
Chromosome Location	chr21:40683507-40687455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1025)
CpG islands
(count:551)
Chromatin interactive
region (count:46)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:40684237-40684587	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40684160-40684495	K562	blood:	n/a	n/a
3	ARID3A	chr21:40685459-40685944	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:40685486-40686045	K562	blood:	n/a	n/a
5	ATF1	chr21:40684204-40684554	K562	blood:	n/a	n/a
6	ATF2	chr21:40685445-40685848	GM12878	blood:	n/a	n/a
7	ATF2	chr21:40685478-40685788	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr21:40686170-40686911	GM12878	blood:	n/a	n/a
9	ATF2	chr21:40686129-40686473	GM12878	blood:	n/a	n/a
10	ATF2	chr21:40685801-40686058	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr21:40685537-40685975	A549	lung:	n/a	n/a
12	ATF3	chr21:40685702-40686024	K562	blood:	n/a	n/a
13	BACH1	chr21:40686590-40686830	K562	blood:	n/a	n/a
14	BACH1	chr21:40683959-40684349	K562	blood:	n/a	n/a
15	BACH1	chr21:40685595-40685978	K562	blood:	n/a	n/a
16	BACH1	chr21:40685672-40686138	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr21:40684507-40684547	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr21:40686512-40686785	GM12878	blood:	n/a	n/a
19	BATF	chr21:40686500-40686798	GM12878	blood:	n/a	n/a
20	BCL3	chr21:40685633-40686059	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
21	BCLAF1	chr21:40685291-40686106	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
22	BCLAF1	chr21:40685340-40686135	GM12878	blood:	n/a	chr21:40685860-40685873 chr21:40685852-40685865
23	BHLHE40	chr21:40684135-40684760	K562	blood:	n/a	n/a
24	BHLHE40	chr21:40685487-40686202	HepG2	liver:	n/a	chr21:40685751-40685767 chr21:40685847-40685863
25	BHLHE40	chr21:40685118-40686771	K562	blood:	n/a	chr21:40685139-40685155 chr21:40685751-40685767 chr21:40685847-40685863
26	BHLHE40	chr21:40685454-40686741	GM12878	blood:	n/a	chr21:40685751-40685767 chr21:40685847-40685863
27	BHLHE40	chr21:40684117-40684584	GM12878	blood:	n/a	n/a
28	BRCA1	chr21:40685426-40686178	GM12878	blood:	n/a	n/a
29	BRCA1	chr21:40685535-40685880	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr21:40684271-40684587	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr21:40685589-40685909	HepG2	liver:	n/a	n/a
32	CBX3	chr21:40686166-40686912	K562	blood:	n/a	n/a
33	CBX3	chr21:40685292-40686110	K562	blood:	n/a	n/a
34	CBX3	chr21:40684026-40684650	K562	blood:	n/a	n/a
35	CBX3	chr21:40685309-40686130	HCT-116	colon:	n/a	n/a
36	CCNT2	chr21:40684281-40684672	K562	blood:	n/a	n/a
37	CCNT2	chr21:40684902-40686697	K562	blood:	n/a	chr21:40685051-40685060 chr21:40685265-40685274 chr21:40685765-40685774
38	CEBPB	chr21:40685578-40686039	K562	blood:	n/a	n/a
39	CEBPB	chr21:40684297-40684385	K562	blood:	n/a	chr21:40684309-40684322
40	CEBPB	chr21:40685845-40686035	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr21:40685891-40686125	HepG2	liver:	n/a	n/a
42	CEBPB	chr21:40685352-40685969	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPD	chr21:40684297-40684684	HepG2	liver:	n/a	n/a
44	CEBPD	chr21:40686056-40686420	HepG2	liver:	n/a	n/a
45	CEBPD	chr21:40685302-40686093	K562	blood:	n/a	n/a
46	CEBPD	chr21:40685339-40686011	HepG2	liver:	n/a	n/a
47	CEBPD	chr21:40685788-40685973	HepG2	liver:	n/a	n/a
48	CHD1	chr21:40685647-40686747	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr21:40685328-40685423	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr21:40685060-40685096	H1-hESC	embryonic stem cell:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40685342-40685392	RPTEC	kidney:	n/a
2	chr21:40686621-40686671	PrEC	prostate:	n/a
3	chr21:40685342-40685392	RPTEC	kidney:	n/a
4	chr21:40686621-40686671	PrEC	prostate:	n/a
5	chr21:40684269-40684319	PANC-1	pancreas:	n/a
6	chr21:40686185-40686235	PFSK-1	brain:	n/a
7	chr21:40685208-40685258	HMEC	breast:	n/a
8	chr21:40685679-40685729	NT2-D1	testis:	n/a
9	chr21:40684751-40684801	GM12878	blood:	n/a
10	chr21:40686185-40686235	HMEC	breast:	n/a
11	chr21:40685679-40685729	HMEC	breast:	n/a
12	chr21:40685679-40685729	BJ	skin:	n/a
13	chr21:40684731-40684781	IMR90	lung:	fetal
14	chr21:40685208-40685258	NT2-D1	testis:	n/a
15	chr21:40686621-40686671	HAEpiC	amniotic membrane:	n/a
16	chr21:40685342-40685392	HAEpiC	amniotic membrane:	n/a
17	chr21:40685342-40685392	HEEpiC	esophagus:	n/a
18	chr21:40684731-40684781	AG04450	lung:	fetal
19	chr21:40686621-40686671	HCM	heart:	n/a
20	chr21:40684751-40684801	HepG2	liver:	n/a
21	chr21:40684751-40684801	PFSK-1	brain:	n/a
22	chr21:40686053-40686103	GM06990	blood:	n/a
23	chr21:40684751-40684801	NB4	blood:	n/a
24	chr21:40686053-40686103	T-47D	breast:	n/a
25	chr21:40686621-40686671	RPTEC	kidney:	n/a
26	chr21:40686053-40686103	BE2_C	brain:	n/a
27	chr21:40686621-40686671	HCT-116	colon:	n/a
28	chr21:40686053-40686103	CMK	blood:	n/a
29	chr21:40685342-40685392	GM12891	blood:	n/a
30	chr21:40685679-40685729	HEEpiC	esophagus:	n/a
31	chr21:40686185-40686235	A549	lung:	n/a
32	chr21:40686053-40686103	NH-A	brain:	n/a
33	chr21:40684269-40684319	HPAEpiC	pulmonary alveolar:	n/a
34	chr21:40686053-40686103	MCF10A-Er-Src	breast:	n/a
35	chr21:40684731-40684781	LNCaP	prostate:	n/a
36	chr21:40684751-40684801	GM12892	blood:	n/a
37	chr21:40685208-40685258	SK-N-SH_RA	brain:	n/a
38	chr21:40686185-40686235	SKMC	muscle:	n/a
39	chr21:40684751-40684801	HCF	heart:	n/a
40	chr21:40685342-40685392	HCM	heart:	n/a
41	chr21:40686185-40686235	HUVEC	blood vessel:	n/a
42	chr21:40685342-40685392	HCT-116	colon:	n/a
43	chr21:40684751-40684801	RPTEC	kidney:	n/a
44	chr21:40685679-40685729	Jurkat	blood:	n/a
45	chr21:40686185-40686235	LNCaP	prostate:	n/a
46	chr21:40684751-40684801	Hela-S3	cervix:	n/a
47	chr21:40686621-40686671	T-47D	breast:	n/a
48	chr21:40684731-40684781	Hepatocyte	liver:	n/a
49	chr21:40685342-40685392	LNCaP	prostate:	n/a
50	chr21:40686053-40686103	MCF-7	breast:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40684209..40686276-chr21:40817224..40819799,4	MCF-7	breast:
2	chr19:33863948..33864786-chr21:40685269..40686182,2	Hela-S3	cervix:
3	chr2:238392237..238394703-chr21:40685639..40687456,2	MCF-7	breast:
4	chr21:40684582..40688018-chr21:40762846..40766549,4	MCF-7	breast:
5	chr21:40672762..40675001-chr21:40682440..40684098,2	K562	blood:
6	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
7	chr21:40685861..40686376-chr21:40719745..40720551,2	MCF-7	breast:
8	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
9	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
10	chr21:40686237..40688163-chr21:40821826..40824303,2	MCF-7	breast:
11	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
12	chr21:40684107..40685647-chr21:40816624..40819498,2	K562	blood:
13	chr21:40684648..40686149-chr3:63849352..63850917,2	MCF-7	breast:
14	chr21:40683717..40685708-chr21:40747929..40750593,3	MCF-7	breast:
15	21:40686083-40686932..21:40757151-40764378	K562	blood:
16	chr21:40683731..40685549-chr21:40816150..40817682,2	MCF-7	breast:
17	chr21:40685228..40687774-chr21:40751832..40753804,3	K562	blood:
18	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
19	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
20	chr21:40684444..40687629-chr3:63848425..63851169,6	MCF-7	breast:
21	chr21:37527438..37529025-chr21:40684261..40686264,2	MCF-7	breast:
22	chr21:40683507..40684404-chr21:40721331..40722058,2	MCF-7	breast:
23	chr21:40591760..40593585-chr21:40682186..40684474,2	K562	blood:
24	chr21:40685837..40686745-chr5:175875260..175875880,2	Hela-S3	cervix:
25	chr20:50349937..50351852-chr21:40684525..40686487,2	MCF-7	breast:
26	chr21:40685845..40686781-chr3:9438942..9439442,2	Hela-S3	cervix:
27	21:40686083-40686932..21:40748850-40752541	K562	blood:
28	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
29	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
30	21:40687235-40690033..21:40757151-40764378	K562	blood:
31	chr11:64545391..64546081-chr21:40685867..40686815,2	NB4	blood:
32	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
33	chr21:40684445..40685036-chr3:160283085..160283851,2	Hela-S3	cervix:
34	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:
35	chr1:149858125..149858824-chr21:40685009..40685850,2	Hela-S3	cervix:
36	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:
37	chr21:40555032..40557155-chr21:40684133..40685858,2	MCF-7	breast:
38	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
39	chr21:40684138..40686385-chr9:131445458..131447217,2	MCF-7	breast:
40	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
41	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
42	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
43	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
44	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
45	chr21:40645055..40648656-chr21:40680491..40684092,3	K562	blood:
46	chr21:40684466..40689800-chr21:40758261..40763098,10	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRWD1-IT2-1	chr21:40685888-40686369	ENSG00000255568.2
2	lnc-BRWD1-IT2-1	chr21:40685861-40686888	NONHSAT082161
3	lnc-WRB-2	chr21:40685704-40686091	XLOC_013942
4	lnc-BRWD1-IT2-1	chr21:40685887-40686886	ENSG00000255568.2

No data

Variant related genes	Relation type
BRWD1	TF binding region
BRWD1-AS1	TF binding region
BRWD1-IT2	TF binding region
BRWD1	CpG island
BRWD1-AS1	CpG island
BRWD1-IT2	CpG island
ENSG00000205581	chromatin interactions
ENSG00000185437	chromatin interactions
ENSG00000236830	chromatin interactions
ENSG00000238556	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000252915	chromatin interactions
ENSG00000183527	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000215444	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000113194	chromatin interactions
ENSG00000227406	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000158615	chromatin interactions
ENSG00000153879	chromatin interactions
EXOC5	miRNA target sites

Extended variants
information (count: 221 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144639312	chr21:40683535-40683536	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs138575800	chr21:40683548-40683549	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs141667722	chr21:40683568-40683569	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs573539774	chr21:40683577-40683578	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs536982697	chr21:40683606-40683607	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs556602449	chr21:40683678-40683679	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs114874597	chr21:40683680-40683681	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs145239043	chr21:40683688-40683689	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs565435164	chr21:40683690-40683691	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs189323586	chr21:40683714-40683715	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs62223042	chr21:40683740-40683741	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs541530615	chr21:40683763-40683764	Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs561369451	chr21:40683857-40683858	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs530059918	chr21:40683863-40683864	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs550111583	chr21:40683864-40683865	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs562646445	chr21:40683880-40683881	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs531452624	chr21:40683930-40683931	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs137947319	chr21:40683949-40683950	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs79429069	chr21:40683977-40683978	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs533674463	chr21:40684018-40684019	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs547067298	chr21:40684041-40684042	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs567328033	chr21:40684045-40684046	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs565606369	chr21:40684055-40684056	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs78142101	chr21:40684059-40684060	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs74384054	chr21:40684066-40684067	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs2898377	chr21:40684081-40684082	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs181738278	chr21:40684090-40684091	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs533484018	chr21:40684091-40684092	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs556648987	chr21:40684126-40684127	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs539340393	chr21:40684131-40684132	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs186282177	chr21:40684138-40684139	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs572663258	chr21:40684140-40684141	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs541608406	chr21:40684149-40684150	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs117069302	chr21:40684163-40684164	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs575163013	chr21:40684176-40684177	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs144840512	chr21:40684191-40684192	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs543452240	chr21:40684206-40684207	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs200726911	chr21:40684236-40684237	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs563697761	chr21:40684254-40684255	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs531540885	chr21:40684255-40684256	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs551246070	chr21:40684326-40684327	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs564764012	chr21:40684328-40684329	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs190353599	chr21:40684358-40684359	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs536298128	chr21:40684376-40684377	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs2272576	chr21:40684389-40684390	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs569662310	chr21:40684411-40684412	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs572742115	chr21:40684420-40684421	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs540000852	chr21:40684424-40684425	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs2272577	chr21:40684427-40684428	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143724712	chr21:40684487-40684488	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:40664000-40684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:40665000-40683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40665200-40684400	Weak transcription	Colonic Mucosa	Colon
7	chr21:40667000-40684000	Weak transcription	HSMMtube	muscle
8	chr21:40667000-40684200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:40669200-40684200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr21:40669400-40684000	Weak transcription	HUVEC	blood vessel
11	chr21:40669400-40684400	Weak transcription	Esophagus	oesophagus
12	chr21:40669800-40683800	Weak transcription	Brain Substantia Nigra	brain
13	chr21:40670400-40683800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:40672200-40684000	Weak transcription	Aorta	Aorta
15	chr21:40672400-40684000	Weak transcription	Small Intestine	intestine
16	chr21:40672600-40683800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:40672600-40684400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:40672800-40683800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr21:40673600-40683600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr21:40673600-40683600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40673600-40683600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr21:40673600-40683800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:40673600-40684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:40673600-40684400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:40673600-40684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr21:40673800-40683800	Weak transcription	Fetal Kidney	kidney
27	chr21:40675000-40683800	Weak transcription	A549	lung
28	chr21:40675800-40683800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr21:40675800-40684200	Weak transcription	Pancreas	Pancrea
30	chr21:40675800-40684400	Weak transcription	Gastric	stomach
31	chr21:40675800-40684400	Weak transcription	Spleen	Spleen
32	chr21:40676400-40683600	Weak transcription	Colon Smooth Muscle	Colon
33	chr21:40676600-40683800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr21:40676600-40684000	Weak transcription	Brain Germinal Matrix	brain
35	chr21:40676800-40683600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr21:40676800-40683800	Weak transcription	GM12878-XiMat	blood
37	chr21:40677200-40683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:40678200-40683800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:40679400-40683600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:40679400-40683800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr21:40679400-40683800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr21:40679600-40683800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:40679800-40683600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:40679800-40683800	Strong transcription	Fetal Lung	lung
45	chr21:40680000-40683600	Strong transcription	Fetal Muscle Leg	muscle
46	chr21:40680200-40683600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:40680200-40683800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr21:40680400-40684000	Weak transcription	Right Ventricle	heart
49	chr21:40680600-40683800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:40680800-40683600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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