Variant report

Variant	esv3382647
Chromosome Location	chr21:44845124-44848822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:890)
CpG islands
(count:488)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:44847335-44847428	HepG2	liver:	n/a	n/a
2	ATF1	chr21:44846961-44847396	K562	blood:	n/a	chr21:44847265-44847279
3	ATF2	chr21:44847082-44847349	H1-hESC	embryonic stem cell:	n/a	chr21:44847265-44847279
4	ATF2	chr21:44847088-44847463	GM12878	blood:	n/a	chr21:44847265-44847279
5	ATF3	chr21:44847090-44847452	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
6	ATF3	chr21:44847065-44847399	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
7	ATF3	chr21:44847018-44847464	A549	lung:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
8	BACH1	chr21:44845753-44846383	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr21:44847133-44847409	GM12878	blood:	n/a	n/a
11	BCL3	chr21:44847949-44848442	A549	lung:	n/a	n/a
12	BCL3	chr21:44843735-44845840	A549	lung:	n/a	n/a
13	BCL3	chr21:44845701-44846226	A549	lung:	n/a	chr21:44846108-44846117 chr21:44846109-44846122 chr21:44846067-44846080
14	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
15	BCLAF1	chr21:44847071-44847617	GM12878	blood:	n/a	chr21:44847404-44847417 chr21:44847599-44847612
16	BHLHE40	chr21:44846278-44846292	A549	lung:	n/a	n/a
17	BHLHE40	chr21:44846889-44847370	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:44846901-44847446	K562	blood:	n/a	n/a
19	BHLHE40	chr21:44846852-44847520	GM12878	blood:	n/a	n/a
20	BRCA1	chr21:44847124-44847502	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr21:44847010-44847387	Hela-S3	cervix:	n/a	n/a
22	CCNT2	chr21:44845993-44846050	K562	blood:	n/a	n/a
23	CCNT2	chr21:44846855-44847535	K562	blood:	n/a	n/a
24	CEBPB	chr21:44848743-44849248	MCF-7	breast:	n/a	chr21:44848939-44848951
25	CEBPB	chr21:44848002-44848378	A549	lung:	n/a	chr21:44848189-44848200
26	CEBPB	chr21:44847929-44848524	A549	lung:	n/a	chr21:44848189-44848200
27	CEBPB	chr21:44848094-44848287	H1-hESC	embryonic stem cell:	n/a	chr21:44848189-44848200
28	CEBPB	chr21:44847914-44848394	Hela-S3	cervix:	n/a	chr21:44848189-44848200
29	CEBPB	chr21:44848016-44848379	IMR90	lung:	n/a	chr21:44848189-44848200
30	CEBPB	chr21:44847137-44847417	IMR90	lung:	n/a	n/a
31	CEBPB	chr21:44845531-44845863	A549	lung:	n/a	n/a
32	CEBPB	chr21:44848165-44848255	HepG2	liver:	n/a	chr21:44848189-44848200
33	CEBPB	chr21:44847144-44847519	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr21:44846993-44847432	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr21:44848067-44848307	K562	blood:	n/a	chr21:44848189-44848200
36	CEBPB	chr21:44848784-44849339	Hela-S3	cervix:	n/a	chr21:44848939-44848951
37	CEBPB	chr21:44847950-44848395	A549	lung:	n/a	chr21:44848189-44848200
38	CEBPB	chr21:44847947-44848341	MCF-7	breast:	n/a	chr21:44848189-44848200
39	CEBPB	chr21:44847204-44847263	HepG2	liver:	n/a	n/a
40	CEBPD	chr21:44847070-44847275	HepG2	liver:	n/a	n/a
41	CEBPD	chr21:44846729-44847008	HepG2	liver:	n/a	n/a
42	CHD1	chr21:44846358-44846410	GM12878	blood:	n/a	n/a
43	CHD1	chr21:44843691-44848838	IMR90	lung:	n/a	n/a
44	CHD1	chr21:44847267-44847656	GM12878	blood:	n/a	n/a
45	CHD2	chr21:44846928-44847497	GM12878	blood:	n/a	n/a
46	CHD2	chr21:44847124-44847497	K562	blood:	n/a	n/a
47	CHD2	chr21:44847083-44847146	HepG2	liver:	n/a	n/a
48	CHD2	chr21:44845931-44846178	GM12878	blood:	n/a	n/a
49	CHD2	chr21:44846062-44846700	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr21:44846908-44848353	Hela-S3	cervix:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44847606-44847656	Caco-2	colon:	n/a
2	chr21:44847606-44847656	SK-N-SH	brain:	n/a
3	chr21:44847054-44847104	NH-A	brain:	n/a
4	chr21:44847231-44847281	HCPEpiC	choroid plexus:	n/a
5	chr21:44847231-44847281	Jurkat	blood:	n/a
6	chr21:44847606-44847656	HPAEpiC	pulmonary alveolar:	n/a
7	chr21:44845971-44846021	GM19239	blood:	n/a
8	chr21:44845925-44845975	HCPEpiC	choroid plexus:	n/a
9	chr21:44845971-44846021	HCM	heart:	n/a
10	chr21:44847231-44847281	NHDF-neo	bronchial:	n/a
11	chr21:44845927-44845977	NHBE	bronchial:	n/a
12	chr21:44847608-44847658	AG09309	skin:	n/a
13	chr21:44847231-44847281	HRE	kidney:	n/a
14	chr21:44847606-44847656	AG04449	skin:	fetal
15	chr21:44845971-44846021	NB4	blood:	n/a
16	chr21:44847608-44847658	HCM	heart:	n/a
17	chr21:44846625-44846675	AG04449	skin:	fetal
18	chr21:44845927-44845977	ovcar-3	ovarian:	n/a
19	chr21:44846625-44846675	H1-hESC	embryonic stem cell:	embryo
20	chr21:44845971-44846021	CMK	blood:	n/a
21	chr21:44847606-44847656	IMR90	lung:	fetal
22	chr21:44847054-44847104	HCT-116	colon:	n/a
23	chr21:44847608-44847658	HCPEpiC	choroid plexus:	n/a
24	chr21:44847606-44847656	HRPEpiC	eye:	n/a
25	chr21:44846625-44846675	A549	lung:	n/a
26	chr21:44847608-44847658	SK-N-SH_RA	brain:	n/a
27	chr21:44847054-44847104	SAEC	small airway:	n/a
28	chr21:44847231-44847281	NHBE	bronchial:	n/a
29	chr21:44847054-44847104	T-47D	breast:	n/a
30	chr21:44847608-44847658	HPAEpiC	pulmonary alveolar:	n/a
31	chr21:44845925-44845975	Hepatocyte	liver:	n/a
32	chr21:44845971-44846021	ECC-1	luminal epithelium:	n/a
33	chr21:44847231-44847281	HIPEpiC	eye:	n/a
34	chr21:44845927-44845977	LNCaP	prostate:	n/a
35	chr21:44846625-44846675	PrEC	prostate:	n/a
36	chr21:44845927-44845977	AoSMC	blood vessel:	n/a
37	chr21:44847231-44847281	AG09319	gingival:	n/a
38	chr21:44847231-44847281	A549	lung:	n/a
39	chr21:44847606-44847656	AG04450	lung:	fetal
40	chr21:44845927-44845977	HNPCEpiC	eye:	n/a
41	chr21:44845971-44846021	AG04450	lung:	fetal
42	chr21:44847054-44847104	AG09309	skin:	n/a
43	chr21:44845971-44846021	HEK293	kidney:	embryo
44	chr21:44846625-44846675	NHDF-neo	bronchial:	n/a
45	chr21:44845971-44846021	U87	brain:	n/a
46	chr21:44847608-44847658	HCT-116	colon:	n/a
47	chr21:44846625-44846675	Caco-2	colon:	n/a
48	chr21:44845971-44846021	BJ	skin:	n/a
49	chr21:44846625-44846675	K562	blood:	n/a
50	chr21:44847608-44847658	AG10803	skin:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44846143..44846708-chr5:271575..272299,2	Hela-S3	cervix:
2	chr21:44814074..44816129-chr21:44848271..44850690,2	K562	blood:
3	chr21:44737976..44738524-chr21:44847133..44847703,2	MCF-7	breast:
4	chr21:44845968..44846741-chr21:44922767..44923697,3	MCF-7	breast:
5	chr21:44846337..44846838-chr4:87831915..87832415,2	Hela-S3	cervix:
6	chr12:121837471..121838436-chr21:44846036..44846937,2	Hela-S3	cervix:
7	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
8	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
9	chr21:44846547..44847350-chr4:3533615..3534228,2	Hela-S3	cervix:
10	chr11:62432218..62432763-chr21:44845331..44846103,2	Hela-S3	cervix:
11	chr11:65197406..65198191-chr21:44845363..44846011,2	Hela-S3	cervix:
12	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
13	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
14	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
15	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
16	chr13:99852120..99852994-chr21:44846752..44847396,2	Hela-S3	cervix:
17	chr21:44846611..44847448-chr5:172197719..172198326,2	Hela-S3	cervix:
18	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
19	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
20	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
21	chr21:44788113..44790073-chr21:44844727..44846264,2	MCF-7	breast:
22	chr17:62222897..62223818-chr21:44846604..44847770,3	Hela-S3	cervix:
23	chr21:44845672..44847781-chr6:26053868..26056749,2	MCF-7	breast:
24	chr21:44847619..44848186-chr21:44866149..44867134,2	Hela-S3	cervix:
25	chr21:44735164..44735664-chr21:44845974..44846544,2	MCF-7	breast:
26	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
27	chr19:36619003..36619532-chr21:44846275..44846905,2	Hela-S3	cervix:
28	chr21:44845959..44846859-chr21:44922952..44923553,2	Hela-S3	cervix:
29	chr16:3108783..3109454-chr21:44847676..44848561,2	Hela-S3	cervix:
30	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
31	chr2:96874025..96874658-chr21:44845924..44846868,2	Hela-S3	cervix:
32	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
33	chr21:44845919..44846463-chr9:124048978..124049560,2	Hela-S3	cervix:
34	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
35	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
36	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
37	chr1:23670702..23671548-chr21:44846616..44847296,2	HCT-116	colon:
38	chr21:44847288..44848268-chr21:44923043..44923597,2	MCF-7	breast:
39	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
40	chr20:30192471..30193384-chr21:44846268..44846905,2	Hela-S3	cervix:
41	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
42	chr12:120728842..120729740-chr21:44846547..44847348,2	Hela-S3	cervix:
43	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:
44	chr15:65588231..65589027-chr21:44846151..44846952,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SIK1	TF binding region
SIK1	CpG island
ENSG00000228889	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000125944	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000225637	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000237989	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000261971	chromatin interactions
ENSG00000160202	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577404883	chr21:44845179-44845180	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs145003276	chr21:44845240-44845241	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs56171424	chr21:44845254-44845255	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201358826	chr21:44845272-44845273	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs370279333	chr21:44845279-44845280	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs549478743	chr21:44845317-44845318	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs201818967	chr21:44845353-44845354	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs144182369	chr21:44845356-44845357	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs376847563	chr21:44845423-44845424	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs573576127	chr21:44845446-44845447	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs147149171	chr21:44845485-44845486	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs58901188	chr21:44845523-44845524	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184314014	chr21:44845623-44845624	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs375184346	chr21:44845632-44845633	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs569453049	chr21:44845652-44845653	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs549466169	chr21:44845673-44845674	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs377581450	chr21:44845681-44845682	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs555464550	chr21:44845698-44845699	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs371385320	chr21:44845708-44845709	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs111547249	chr21:44845711-44845712	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs573539689	chr21:44845713-44845714	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs140364503	chr21:44845715-44845716	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs552844685	chr21:44845724-44845725	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs113681231	chr21:44845730-44845731	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs544912303	chr21:44845779-44845780	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs201292431	chr21:44845788-44845789	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs563107862	chr21:44845792-44845793	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs575424404	chr21:44845833-44845834	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs542740558	chr21:44845873-44845874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs561474573	chr21:44845880-44845881	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs201427751	chr21:44845885-44845886	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs56796001	chr21:44845888-44845889	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147781218	chr21:44845968-44845969	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs200616322	chr21:44845971-44845972	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs532823315	chr21:44846005-44846006	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs3746951	chr21:44846016-44846017	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	mRNA abundance
37	rs376640139	chr21:44846055-44846056	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs536882645	chr21:44846068-44846069	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs548793897	chr21:44846122-44846123	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs567399736	chr21:44846262-44846263	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs534414937	chr21:44846263-44846264	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs552511336	chr21:44846269-44846270	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs377136813	chr21:44846285-44846286	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs570926807	chr21:44846302-44846303	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs113545648	chr21:44846326-44846327	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs116833033	chr21:44846330-44846331	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs557258071	chr21:44846392-44846393	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs575337068	chr21:44846399-44846400	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs114947186	chr21:44846411-44846412	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs76081789	chr21:44846426-44846427	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44839600-44845400	Weak transcription	NHLF	lung
2	chr21:44841400-44845800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:44841600-44845600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:44841600-44845800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:44841800-44845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:44841800-44845600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:44842000-44845200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:44842000-44845600	Weak transcription	Brain Substantia Nigra	brain
9	chr21:44842000-44845800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
10	chr21:44842200-44845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:44842400-44845600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:44842400-44845800	Transcr. at gene 5' and 3'	NHEK	skin
13	chr21:44842800-44845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:44842800-44845200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:44842800-44845200	Weak transcription	Fetal Thymus	thymus
16	chr21:44842800-44845200	Weak transcription	Spleen	Spleen
17	chr21:44842800-44845600	Weak transcription	K562	blood
18	chr21:44842800-44845800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:44842800-44845800	Active TSS	Psoas Muscle	Psoas
20	chr21:44843000-44847800	Active TSS	GM12878-XiMat	blood
21	chr21:44843400-44845400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:44843800-44845200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr21:44843800-44845200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr21:44843800-44845400	Transcr. at gene 5' and 3'	Liver	Liver
25	chr21:44843800-44845400	Enhancers	Fetal Heart	heart
26	chr21:44843800-44845600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr21:44843800-44845600	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr21:44843800-44845800	Active TSS	Lung	lung
29	chr21:44843800-44846000	Transcr. at gene 5' and 3'	A549	lung
30	chr21:44843800-44848000	Active TSS	Duodenum Mucosa	Duodenum
31	chr21:44843800-44848000	Active TSS	Ovary	ovary
32	chr21:44843800-44848200	Active TSS	Fetal Brain Female	brain
33	chr21:44844000-44845200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:44844000-44845200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr21:44844000-44845200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr21:44844000-44845200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr21:44844000-44845400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:44844000-44845400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:44844000-44845400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
40	chr21:44844000-44845400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
41	chr21:44844000-44845400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr21:44844000-44845600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr21:44844000-44845600	Active TSS	Brain Hippocampus Middle	brain
44	chr21:44844000-44845600	Active TSS	Fetal Brain Male	brain
45	chr21:44844000-44845600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr21:44844000-44845800	Active TSS	Right Atrium	heart
47	chr21:44844000-44845800	Transcr. at gene 5' and 3'	Hela-S3	cervix
48	chr21:44844000-44846400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr21:44844000-44846600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr21:44844000-44846600	Bivalent/Poised TSS	Thymus	Thymus

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