Variant report

Variant	esv3355883
Chromosome Location	chr21:44846549-44849097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:699)
CpG islands
(count:305)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr21:44847018-44847464	A549	lung:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
6	ATF3	chr21:44847090-44847452	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
7	ATF3	chr21:44847065-44847399	K562	blood:	n/a	chr21:44847268-44847276 chr21:44847266-44847276 chr21:44847269-44847276 chr21:44847266-44847276 chr21:44847265-44847276
8	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
9	BATF	chr21:44847133-44847409	GM12878	blood:	n/a	n/a
10	BCL3	chr21:44847949-44848442	A549	lung:	n/a	n/a
11	BCL3	chr21:44847923-44848483	A549	lung:	n/a	n/a
12	BCLAF1	chr21:44847071-44847617	GM12878	blood:	n/a	chr21:44847404-44847417 chr21:44847599-44847612
13	BHLHE40	chr21:44846901-44847446	K562	blood:	n/a	n/a
14	BHLHE40	chr21:44846889-44847370	HepG2	liver:	n/a	n/a
15	BHLHE40	chr21:44846852-44847520	GM12878	blood:	n/a	n/a
16	BRCA1	chr21:44847010-44847387	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr21:44847124-44847502	H1-hESC	embryonic stem cell:	n/a	n/a
18	CCNT2	chr21:44846855-44847535	K562	blood:	n/a	n/a
19	CEBPB	chr21:44847204-44847263	HepG2	liver:	n/a	n/a
20	CEBPB	chr21:44847137-44847417	IMR90	lung:	n/a	n/a
21	CEBPB	chr21:44848002-44848378	A549	lung:	n/a	chr21:44848189-44848200
22	CEBPB	chr21:44847914-44848394	Hela-S3	cervix:	n/a	chr21:44848189-44848200
23	CEBPB	chr21:44847144-44847519	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr21:44847950-44848395	A549	lung:	n/a	chr21:44848189-44848200
25	CEBPB	chr21:44848067-44848307	K562	blood:	n/a	chr21:44848189-44848200
26	CEBPB	chr21:44848165-44848255	HepG2	liver:	n/a	chr21:44848189-44848200
27	CEBPB	chr21:44847929-44848524	A549	lung:	n/a	chr21:44848189-44848200
28	CEBPB	chr21:44847947-44848341	MCF-7	breast:	n/a	chr21:44848189-44848200
29	CEBPB	chr21:44848784-44849339	Hela-S3	cervix:	n/a	chr21:44848939-44848951
30	CEBPB	chr21:44848016-44848379	IMR90	lung:	n/a	chr21:44848189-44848200
31	CEBPB	chr21:44848094-44848287	H1-hESC	embryonic stem cell:	n/a	chr21:44848189-44848200
32	CEBPB	chr21:44848743-44849248	MCF-7	breast:	n/a	chr21:44848939-44848951
33	CEBPB	chr21:44846993-44847432	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr21:44848885-44849078	HepG2	liver:	n/a	chr21:44848939-44848951
35	CEBPB	chr21:44848883-44849023	A549	lung:	n/a	chr21:44848939-44848951
36	CEBPD	chr21:44847070-44847275	HepG2	liver:	n/a	n/a
37	CEBPD	chr21:44846729-44847008	HepG2	liver:	n/a	n/a
38	CHD1	chr21:44843691-44848838	IMR90	lung:	n/a	n/a
39	CHD1	chr21:44847267-44847656	GM12878	blood:	n/a	n/a
40	CHD2	chr21:44846908-44848353	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr21:44846928-44847497	GM12878	blood:	n/a	n/a
42	CHD2	chr21:44847124-44847497	K562	blood:	n/a	n/a
43	CHD2	chr21:44846062-44846700	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr21:44847083-44847146	HepG2	liver:	n/a	n/a
45	CREB1	chr21:44846933-44847527	K562	blood:	n/a	n/a
46	CREB1	chr21:44845830-44847682	A549	lung:	n/a	n/a
47	CREB1	chr21:44847921-44848297	A549	lung:	n/a	n/a
48	CREB1	chr21:44846873-44847465	HepG2	liver:	n/a	n/a
49	CREB1	chr21:44846901-44847546	GM12878	blood:	n/a	n/a
50	CREB1	chr21:44846880-44847514	H1-hESC	embryonic stem cell:	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	chr21:44847054-44847104	IMR90	lung:	fetal
2	chr21:44847231-44847281	SKMC	muscle:	n/a
3	chr21:44847606-44847656	GM12891	blood:	n/a
4	chr21:44847606-44847656	U87	brain:	n/a
5	chr21:44847608-44847658	PFSK-1	brain:	n/a
6	chr21:44847606-44847656	NHDF-neo	bronchial:	n/a
7	chr21:44846625-44846675	HCPEpiC	choroid plexus:	n/a
8	chr21:44847054-44847104	PFSK-1	brain:	n/a
9	chr21:44847231-44847281	SAEC	small airway:	n/a
10	chr21:44847231-44847281	H1-hESC	embryonic stem cell:	embryo
11	chr21:44846625-44846675	PrEC	prostate:	n/a
12	chr21:44846625-44846675	Hepatocyte	liver:	n/a
13	chr21:44847054-44847104	HRE	kidney:	n/a
14	chr21:44847054-44847104	SAEC	small airway:	n/a
15	chr21:44847606-44847656	NH-A	brain:	n/a
16	chr21:44847606-44847656	HPAEpiC	pulmonary alveolar:	n/a
17	chr21:44847054-44847104	NT2-D1	testis:	n/a
18	chr21:44846625-44846675	GM12891	blood:	n/a
19	chr21:44846625-44846675	AG10803	skin:	n/a
20	chr21:44847606-44847656	IMR90	lung:	fetal
21	chr21:44847231-44847281	HNPCEpiC	eye:	n/a
22	chr21:44846625-44846675	BJ	skin:	n/a
23	chr21:44847608-44847658	HCPEpiC	choroid plexus:	n/a
24	chr21:44846625-44846675	GM06990	blood:	n/a
25	chr21:44847606-44847656	AG10803	skin:	n/a
26	chr21:44847608-44847658	HPAEpiC	pulmonary alveolar:	n/a
27	chr21:44847606-44847656	HUVEC	blood vessel:	n/a
28	chr21:44847606-44847656	SK-N-SH	brain:	n/a
29	chr21:44847054-44847104	AG04450	lung:	fetal
30	chr21:44847608-44847658	HRCEpiC	kidney:	n/a
31	chr21:44847231-44847281	PFSK-1	brain:	n/a
32	chr21:44847606-44847656	HIPEpiC	eye:	n/a
33	chr21:44847606-44847656	ProgFib	skin:	n/a
34	chr21:44846625-44846675	HEK293	kidney:	embryo
35	chr21:44847231-44847281	Caco-2	colon:	n/a
36	chr21:44846625-44846675	Caco-2	colon:	n/a
37	chr21:44847231-44847281	SK-N-SH_RA	brain:	n/a
38	chr21:44847054-44847104	BJ	skin:	n/a
39	chr21:44847606-44847656	HEK293	kidney:	embryo
40	chr21:44847608-44847658	LNCaP	prostate:	n/a
41	chr21:44847054-44847104	AoSMC	blood vessel:	n/a
42	chr21:44846625-44846675	HEEpiC	esophagus:	n/a
43	chr21:44847608-44847658	NT2-D1	testis:	n/a
44	chr21:44847054-44847104	Hepatocyte	liver:	n/a
45	chr21:44847054-44847104	T-47D	breast:	n/a
46	chr21:44846625-44846675	AG04449	skin:	fetal
47	chr21:44847054-44847104	HAEpiC	amniotic membrane:	n/a
48	chr21:44847606-44847656	MCF10A-Er-Src	breast:	n/a
49	chr21:44847608-44847658	HCT-116	colon:	n/a
50	chr21:44847054-44847104	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
2	chr21:44737976..44738524-chr21:44847133..44847703,2	MCF-7	breast:
3	chr1:23670702..23671548-chr21:44846616..44847296,2	HCT-116	colon:
4	chr21:44847288..44848268-chr21:44923043..44923597,2	MCF-7	breast:
5	chr21:44848975..44850678-chr21:44898066..44901023,2	MCF-7	breast:
6	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
7	chr21:44846337..44846838-chr4:87831915..87832415,2	Hela-S3	cervix:
8	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
9	chr16:3108783..3109454-chr21:44847676..44848561,2	Hela-S3	cervix:
10	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
11	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
12	chr21:44845959..44846859-chr21:44922952..44923553,2	Hela-S3	cervix:
13	chr13:99852120..99852994-chr21:44846752..44847396,2	Hela-S3	cervix:
14	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
15	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
16	chr12:121837471..121838436-chr21:44846036..44846937,2	Hela-S3	cervix:
17	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
18	chr17:62222897..62223818-chr21:44846604..44847770,3	Hela-S3	cervix:
19	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:
20	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
21	chr21:44847619..44848186-chr21:44866149..44867134,2	Hela-S3	cervix:
22	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
23	chr21:44849005..44851028-chr21:44877473..44879496,2	MCF-7	breast:
24	chr12:120728842..120729740-chr21:44846547..44847348,2	Hela-S3	cervix:
25	chr21:44845968..44846741-chr21:44922767..44923697,3	MCF-7	breast:
26	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
27	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
28	chr21:44846143..44846708-chr5:271575..272299,2	Hela-S3	cervix:
29	chr21:44778568..44780302-chr21:44848836..44851138,2	MCF-7	breast:
30	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
31	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
32	chr2:96874025..96874658-chr21:44845924..44846868,2	Hela-S3	cervix:
33	chr21:44846547..44847350-chr4:3533615..3534228,2	Hela-S3	cervix:
34	chr20:30192471..30193384-chr21:44846268..44846905,2	Hela-S3	cervix:
35	chr21:44814074..44816129-chr21:44848271..44850690,2	K562	blood:
36	chr21:44846611..44847448-chr5:172197719..172198326,2	Hela-S3	cervix:
37	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
38	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
39	chr15:65588231..65589027-chr21:44846151..44846952,2	Hela-S3	cervix:
40	chr19:36619003..36619532-chr21:44846275..44846905,2	Hela-S3	cervix:
41	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
42	chr21:44845672..44847781-chr6:26053868..26056749,2	MCF-7	breast:

No data

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

Extended variants
information (count: 64 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540748796	chr21:44846577-44846578	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	21 gene(s)	Overlapped CNVs	n/a
2	rs565254357	chr21:44846610-44846611	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
3	rs179327	chr21:44846614-44846615	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs544902761	chr21:44846661-44846662	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
5	rs563234411	chr21:44846685-44846686	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
6	rs112853456	chr21:44846712-44846713	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs530227624	chr21:44846845-44846846	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs567882019	chr21:44846867-44846868	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs548714790	chr21:44846879-44846880	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
10	rs566959748	chr21:44846981-44846982	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs528140804	chr21:44847008-44847009	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs866289	chr21:44847305-44847306	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs539960843	chr21:44847387-44847388	Weak transcription Bivalent/Poised TSS Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs570894483	chr21:44847526-44847527	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs538288020	chr21:44847585-44847586	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs559224518	chr21:44847760-44847761	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs373205671	chr21:44847810-44847811	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs58548854	chr21:44847820-44847821	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371275211	chr21:44847836-44847837	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs61696572	chr21:44847870-44847871	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536167648	chr21:44847888-44847889	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs181741209	chr21:44847947-44847948	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs377301266	chr21:44847997-44847998	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs142124377	chr21:44847998-44847999	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs187231228	chr21:44848054-44848055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs189343643	chr21:44848065-44848066	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs577170655	chr21:44848069-44848070	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs229347	chr21:44848070-44848071	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs180784557	chr21:44848099-44848100	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs544639916	chr21:44848110-44848111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs562742109	chr21:44848137-44848138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs186217584	chr21:44848140-44848141	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs190215141	chr21:44848172-44848173	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs371063780	chr21:44848181-44848182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs35161647	chr21:44848182-44848183	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs472497	chr21:44848203-44848204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs182843305	chr21:44848216-44848217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs150532609	chr21:44848234-44848235	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs3222944	chr21:44848242-44848243	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs58667067	chr21:44848243-44848244	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs60185073	chr21:44848244-44848245	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs151182560	chr21:44848271-44848272	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs550511608	chr21:44848274-44848275	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs568777737	chr21:44848340-44848341	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs140305208	chr21:44848374-44848375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs185912990	chr21:44848380-44848381	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs572436070	chr21:44848406-44848407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs528231154	chr21:44848413-44848414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs566653069	chr21:44848445-44848446	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs190675427	chr21:44848477-44848478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	8 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:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44843000-44847800	Active TSS	GM12878-XiMat	blood
2	chr21:44843800-44848000	Active TSS	Duodenum Mucosa	Duodenum
3	chr21:44843800-44848000	Active TSS	Ovary	ovary
4	chr21:44843800-44848200	Active TSS	Fetal Brain Female	brain
5	chr21:44844000-44846600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr21:44844000-44846600	Bivalent/Poised TSS	Thymus	Thymus
7	chr21:44844000-44848000	Active TSS	Brain Anterior Caudate	brain
8	chr21:44844400-44847400	Active TSS	Pancreas	Pancrea
9	chr21:44844400-44848000	Active TSS	Left Ventricle	heart
10	chr21:44844400-44848200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr21:44844600-44846600	Active TSS	Rectal Smooth Muscle	rectum
12	chr21:44844600-44848200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr21:44844800-44847400	Active TSS	HMEC	breast
14	chr21:44844800-44847800	Active TSS	HSMMtube	muscle
15	chr21:44845200-44846800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr21:44845200-44847600	Active TSS	Gastric	stomach
17	chr21:44845200-44847800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr21:44845200-44848000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:44845400-44846800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
20	chr21:44845400-44847800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:44845400-44847800	Active TSS	Liver	Liver
22	chr21:44845400-44847800	Active TSS	Osteobl	bone
23	chr21:44845400-44848000	Active TSS	Brain Angular Gyrus	brain
24	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr21:44845600-44846600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr21:44845600-44847600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr21:44845600-44847800	Active TSS	HSMM	muscle
32	chr21:44845600-44848000	Active TSS	Esophagus	oesophagus
33	chr21:44845600-44848000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr21:44845600-44848000	Active TSS	Small Intestine	intestine
35	chr21:44845600-44848200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr21:44845800-44846600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr21:44845800-44846600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr21:44845800-44846600	Active TSS	Fetal Kidney	kidney
39	chr21:44845800-44846800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr21:44845800-44846800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:44845800-44847000	Transcr. at gene 5' and 3'	Right Atrium	heart
42	chr21:44845800-44847400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr21:44845800-44847600	Active TSS	NHEK	skin
44	chr21:44845800-44847800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:44845800-44847800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr21:44845800-44847800	Active TSS	Primary B cells from peripheral blood	blood
47	chr21:44845800-44847800	Weak transcription	Fetal Heart	heart
48	chr21:44845800-44847800	Active TSS	Hela-S3	cervix
49	chr21:44845800-44848000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:44846000-44846600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived

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