Variant report

Variant	nsv828904
Chromosome Location	chr21:44841802-44850191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1080)
CpG islands
(count:549)
Chromatin interactive
region (count:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

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	chr21:44847088-44847463	GM12878	blood:	n/a	chr21:44847265-44847279
4	ATF2	chr21:44847082-44847349	H1-hESC	embryonic stem cell:	n/a	chr21:44847265-44847279
5	ATF3	chr21:44841596-44841907	A549	lung:	n/a	n/a
6	ATF3	chr21:44847018-44847464	A549	lung:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
7	ATF3	chr21:44843997-44844632	A549	lung:	n/a	n/a
8	ATF3	chr21:44842312-44842894	A549	lung:	n/a	n/a
9	ATF3	chr21:44847090-44847452	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
10	ATF3	chr21:44847065-44847399	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
11	BACH1	chr21:44845753-44846383	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr21:44847133-44847409	GM12878	blood:	n/a	n/a
14	BCL3	chr21:44841730-44842288	A549	lung:	n/a	n/a
15	BCL3	chr21:44843180-44843551	A549	lung:	n/a	n/a
16	BCL3	chr21:44845701-44846226	A549	lung:	n/a	chr21:44846108-44846117 chr21:44846109-44846122 chr21:44846067-44846080
17	BCL3	chr21:44843776-44844678	A549	lung:	n/a	n/a
18	BCL3	chr21:44847949-44848442	A549	lung:	n/a	n/a
19	BCL3	chr21:44841441-44842016	A549	lung:	n/a	n/a
20	BCL3	chr21:44842472-44843063	A549	lung:	n/a	n/a
21	BCL3	chr21:44843735-44845840	A549	lung:	n/a	n/a
22	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
23	BCL3	chr21:44842341-44842988	A549	lung:	n/a	n/a
24	BCLAF1	chr21:44847071-44847617	GM12878	blood:	n/a	chr21:44847404-44847417 chr21:44847599-44847612
25	BHLHE40	chr21:44846278-44846292	A549	lung:	n/a	n/a
26	BHLHE40	chr21:44850191-44850912	GM12878	blood:	n/a	n/a
27	BHLHE40	chr21:44846901-44847446	K562	blood:	n/a	n/a
28	BHLHE40	chr21:44846852-44847520	GM12878	blood:	n/a	n/a
29	BHLHE40	chr21:44846889-44847370	HepG2	liver:	n/a	n/a
30	BRCA1	chr21:44847010-44847387	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr21:44847124-44847502	H1-hESC	embryonic stem cell:	n/a	n/a
32	CCNT2	chr21:44846855-44847535	K562	blood:	n/a	n/a
33	CCNT2	chr21:44845993-44846050	K562	blood:	n/a	n/a
34	CEBPB	chr21:44846993-44847432	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr21:44848094-44848287	H1-hESC	embryonic stem cell:	n/a	chr21:44848189-44848200
36	CEBPB	chr21:44847950-44848395	A549	lung:	n/a	chr21:44848189-44848200
37	CEBPB	chr21:44848002-44848378	A549	lung:	n/a	chr21:44848189-44848200
38	CEBPB	chr21:44848883-44849023	A549	lung:	n/a	chr21:44848939-44848951
39	CEBPB	chr21:44844049-44844598	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr21:44844253-44844575	A549	lung:	n/a	n/a
41	CEBPB	chr21:44848016-44848379	IMR90	lung:	n/a	chr21:44848189-44848200
42	CEBPB	chr21:44847929-44848524	A549	lung:	n/a	chr21:44848189-44848200
43	CEBPB	chr21:44848743-44849248	MCF-7	breast:	n/a	chr21:44848939-44848951
44	CEBPB	chr21:44847137-44847417	IMR90	lung:	n/a	n/a
45	CEBPB	chr21:44847204-44847263	HepG2	liver:	n/a	n/a
46	CEBPB	chr21:44848784-44849339	Hela-S3	cervix:	n/a	chr21:44848939-44848951
47	CEBPB	chr21:44848885-44849078	HepG2	liver:	n/a	chr21:44848939-44848951
48	CEBPB	chr21:44847144-44847519	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr21:44845531-44845863	A549	lung:	n/a	n/a
50	CEBPB	chr21:44847947-44848341	MCF-7	breast:	n/a	chr21:44848189-44848200

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:44847054-44847104	HEK293	kidney:	embryo
2	chr21:44843568-44843618	PFSK-1	brain:	n/a
3	chr21:44847608-44847658	NT2-D1	testis:	n/a
4	chr21:44845971-44846021	NHBE	bronchial:	n/a
5	chr21:44845927-44845977	HAEpiC	amniotic membrane:	n/a
6	chr21:44845927-44845977	PANC-1	pancreas:	n/a
7	chr21:44847606-44847656	MCF10A-Er-Src	breast:	n/a
8	chr21:44847606-44847656	PFSK-1	brain:	n/a
9	chr21:44845971-44846021	ovcar-3	ovarian:	n/a
10	chr21:44846625-44846675	SK-N-MC	brain:	n/a
11	chr21:44847606-44847656	AG04449	skin:	fetal
12	chr21:44847608-44847658	HIPEpiC	eye:	n/a
13	chr21:44847054-44847104	SK-N-MC	brain:	n/a
14	chr21:44845971-44846021	Hela-S3	cervix:	n/a
15	chr21:44845925-44845975	GM12891	blood:	n/a
16	chr21:44847231-44847281	HEK293	kidney:	embryo
17	chr21:44845925-44845975	AG04449	skin:	fetal
18	chr21:44845925-44845975	Hela-S3	cervix:	n/a
19	chr21:44845925-44845975	NH-A	brain:	n/a
20	chr21:44846625-44846675	IMR90	lung:	fetal
21	chr21:44847606-44847656	BJ	skin:	n/a
22	chr21:44846625-44846675	GM06990	blood:	n/a
23	chr21:44845971-44846021	HAEpiC	amniotic membrane:	n/a
24	chr21:44845971-44846021	MCF10A-Er-Src	breast:	n/a
25	chr21:44845927-44845977	AG04450	lung:	fetal
26	chr21:44843568-44843618	ovcar-3	ovarian:	n/a
27	chr21:44845927-44845977	HNPCEpiC	eye:	n/a
28	chr21:44845927-44845977	CMK	blood:	n/a
29	chr21:44847054-44847104	ovcar-3	ovarian:	n/a
30	chr21:44847606-44847656	BE2_C	brain:	n/a
31	chr21:44847606-44847656	SKMC	muscle:	n/a
32	chr21:44845927-44845977	NHDF-neo	bronchial:	n/a
33	chr21:44845925-44845975	AG09309	skin:	n/a
34	chr21:44847608-44847658	AG10803	skin:	n/a
35	chr21:44843568-44843618	U87	brain:	n/a
36	chr21:44846625-44846675	RPTEC	kidney:	n/a
37	chr21:44845925-44845975	SK-N-SH	brain:	n/a
38	chr21:44843568-44843618	MCF-7	breast:	n/a
39	chr21:44847231-44847281	SK-N-SH_RA	brain:	n/a
40	chr21:44843568-44843618	HCF	heart:	n/a
41	chr21:44845971-44846021	RPTEC	kidney:	n/a
42	chr21:44845925-44845975	HEEpiC	esophagus:	n/a
43	chr21:44843568-44843618	HRCEpiC	kidney:	n/a
44	chr21:44845971-44846021	HIPEpiC	eye:	n/a
45	chr21:44845927-44845977	U87	brain:	n/a
46	chr21:44847608-44847658	MCF-7	breast:	n/a
47	chr21:44843568-44843618	A549	lung:	n/a
48	chr21:44846625-44846675	HCPEpiC	choroid plexus:	n/a
49	chr21:44845927-44845977	ECC-1	luminal epithelium:	n/a
50	chr21:44843568-44843618	HPAEpiC	pulmonary alveolar:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44848975..44850678-chr21:44898066..44901023,2	MCF-7	breast:
2	chr21:44847288..44848268-chr21:44923043..44923597,2	MCF-7	breast:
3	chr12:121837471..121838436-chr21:44846036..44846937,2	Hela-S3	cervix:
4	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
5	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
6	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
7	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
8	chr1:23670702..23671548-chr21:44846616..44847296,2	HCT-116	colon:
9	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
10	chr19:36619003..36619532-chr21:44846275..44846905,2	Hela-S3	cervix:
11	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
12	chr21:44846143..44846708-chr5:271575..272299,2	Hela-S3	cervix:
13	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
14	chr21:44846337..44846838-chr4:87831915..87832415,2	Hela-S3	cervix:
15	chr15:65588231..65589027-chr21:44846151..44846952,2	Hela-S3	cervix:
16	chr21:44601197..44603306-chr21:44842721..44844263,2	MCF-7	breast:
17	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
18	chr21:44814074..44816129-chr21:44848271..44850690,2	K562	blood:
19	chr12:105629634..105630197-chr21:44842387..44843356,2	Hela-S3	cervix:
20	chr21:44788113..44790073-chr21:44844727..44846264,2	MCF-7	breast:
21	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
22	chr21:44847619..44848186-chr21:44866149..44867134,2	Hela-S3	cervix:
23	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
24	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
25	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
26	chr21:44849921..44853234-chr21:44860394..44863956,3	MCF-7	breast:
27	chr13:99852120..99852994-chr21:44846752..44847396,2	Hela-S3	cervix:
28	chr21:44845968..44846741-chr21:44922767..44923697,3	MCF-7	breast:
29	chr11:65197406..65198191-chr21:44845363..44846011,2	Hela-S3	cervix:
30	chr21:44593265..44594962-chr21:44842242..44844162,2	K562	blood:
31	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
32	chr16:3108783..3109454-chr21:44847676..44848561,2	Hela-S3	cervix:
33	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
34	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
35	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
36	chr21:44844394..44844953-chr9:115512386..115513019,2	Hela-S3	cervix:
37	chr20:30192471..30193384-chr21:44846268..44846905,2	Hela-S3	cervix:
38	chr11:62432218..62432763-chr21:44845331..44846103,2	Hela-S3	cervix:
39	chr21:44849005..44851028-chr21:44877473..44879496,2	MCF-7	breast:
40	chr21:44845672..44847781-chr6:26053868..26056749,2	MCF-7	breast:
41	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
42	chr21:44829431..44829955-chr21:44849916..44850639,2	MCF-7	breast:
43	chr21:44737976..44738524-chr21:44847133..44847703,2	MCF-7	breast:
44	chr1:150337019..150337606-chr21:44843687..44844677,2	Hela-S3	cervix:
45	chr15:22833332..22833857-chr21:44841575..44842558,2	Hela-S3	cervix:
46	chr21:44845959..44846859-chr21:44922952..44923553,2	Hela-S3	cervix:
47	chr21:44846611..44847448-chr5:172197719..172198326,2	Hela-S3	cervix:
48	chr12:120728842..120729740-chr21:44846547..44847348,2	Hela-S3	cervix:
49	chr2:96874025..96874658-chr21:44845924..44846868,2	Hela-S3	cervix:
50	chr21:44735164..44735664-chr21:44845974..44846544,2	MCF-7	breast:

No data

Variant related genes	Relation type
SIK1	TF binding region
SIK1	CpG island
ENSG00000202538	chromatin interactions
ENSG00000160208	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000237989	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000170633	chromatin interactions
ENSG00000228889	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000171316	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000125944	chromatin interactions
ENSG00000261971	chromatin interactions
ENSG00000160207	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000225637	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000237864	chromatin interactions
ENSG00000188660	chromatin interactions
ENSG00000160202	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000185186	chromatin interactions
ENSG00000153575	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56265008	chr21:44841804-44841805	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186447229	chr21:44841806-44841807	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374450438	chr21:44841810-44841811	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs57684950	chr21:44841819-44841820	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369852946	chr21:44841821-44841822	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374251012	chr21:44841860-44841861	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201331473	chr21:44841885-44841886	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149932987	chr21:44841888-44841889	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147156765	chr21:44841891-44841892	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550247785	chr21:44841901-44841902	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550878772	chr21:44841920-44841921	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs59151119	chr21:44841945-44841946	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373216828	chr21:44841948-44841949	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs529652397	chr21:44842014-44842015	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150136301	chr21:44842025-44842026	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562528242	chr21:44842030-44842031	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs566351750	chr21:44842059-44842060	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530067397	chr21:44842068-44842069	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs59028695	chr21:44842069-44842070	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs534055843	chr21:44842152-44842153	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs558912411	chr21:44842161-44842162	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs145572179	chr21:44842194-44842195	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182973895	chr21:44842195-44842196	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs60567075	chr21:44842226-44842227	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556683610	chr21:44842252-44842253	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs574830139	chr21:44842263-44842264	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541969101	chr21:44842289-44842290	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs187660529	chr21:44842290-44842291	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192515832	chr21:44842327-44842328	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs546069680	chr21:44842333-44842334	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs564477299	chr21:44842339-44842340	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs531780480	chr21:44842352-44842353	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs114091428	chr21:44842430-44842431	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs60022979	chr21:44842438-44842439	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529752589	chr21:44842449-44842450	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs62217370	chr21:44842455-44842456	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs60066227	chr21:44842510-44842511	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527316988	chr21:44842511-44842512	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs148894904	chr21:44842533-44842534	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs570800052	chr21:44842538-44842539	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538034920	chr21:44842548-44842549	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs73906548	chr21:44842554-44842555	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373238808	chr21:44842593-44842594	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs568177469	chr21:44842612-44842613	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs143603582	chr21:44842646-44842647	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535917112	chr21:44842653-44842654	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs554005075	chr21:44842676-44842677	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572392063	chr21:44842699-44842700	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs380876	chr21:44842702-44842703	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs449049	chr21:44842706-44842707	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 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:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44831400-44844000	Weak transcription	Right Atrium	heart
2	chr21:44832600-44842200	Weak transcription	K562	blood
3	chr21:44833000-44842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:44833200-44842200	Strong transcription	Psoas Muscle	Psoas
5	chr21:44833200-44844000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:44833600-44842200	Strong transcription	Placenta Amnion	Placenta Amnion
7	chr21:44833600-44842800	Transcr. at gene 5' and 3'	A549	lung
8	chr21:44834000-44842800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:44834000-44843800	Strong transcription	Liver	Liver
10	chr21:44834400-44843400	Strong transcription	Fetal Stomach	stomach
11	chr21:44834600-44842200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:44834800-44844000	Weak transcription	Fetal Kidney	kidney
13	chr21:44835000-44842200	Strong transcription	Right Ventricle	heart
14	chr21:44835200-44844000	Weak transcription	NH-A	brain
15	chr21:44835400-44842200	Strong transcription	Fetal Brain Female	brain
16	chr21:44835400-44842200	Strong transcription	Dnd41	blood
17	chr21:44835400-44842800	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr21:44835600-44842200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:44835600-44842200	Strong transcription	Placenta	Placenta
20	chr21:44835600-44842800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr21:44835800-44842400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:44835800-44842400	Strong transcription	Left Ventricle	heart
23	chr21:44835800-44843000	Strong transcription	Thymus	Thymus
24	chr21:44835800-44844000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr21:44836000-44842000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr21:44836000-44842600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr21:44836000-44842600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:44836000-44842600	Strong transcription	Adipose Nuclei	Adipose
29	chr21:44836000-44842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:44836000-44842800	Strong transcription	Fetal Thymus	thymus
31	chr21:44836000-44843200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:44836000-44843400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:44836000-44843800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:44836000-44844000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:44836000-44844200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr21:44836200-44842200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr21:44836200-44842600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:44836200-44844000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:44836200-44844400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:44836400-44842000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr21:44836400-44842600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:44836400-44844000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:44836400-44844000	Strong transcription	Fetal Intestine Small	intestine
44	chr21:44836600-44842000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr21:44836600-44842400	Strong transcription	Ovary	ovary
46	chr21:44836600-44843800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr21:44836800-44842600	Strong transcription	GM12878-XiMat	blood
48	chr21:44837000-44842800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:44837000-44843000	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr21:44837200-44842000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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