Variant report

Variant	rs559224518
Chromosome Location	chr21:44847760-44847761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr21:44845005-44848008	SK-N-SH	brain:	n/a	chr21:44847245-44847260 chr21:44847243-44847258
2	ZBTB7A	chr21:44847068-44847933	K562	blood:	n/a	n/a
3	RAD21	chr21:44846842-44848295	IMR90	lung:	n/a	n/a
4	MXI1	chr21:44846832-44847784	GM12878	blood:	n/a	chr21:44847245-44847260 chr21:44847243-44847258
5	PAX5	chr21:44846942-44848031	GM12878	blood:	n/a	chr21:44847676-44847685 chr21:44847668-44847687
6	RFX5	chr21:44846886-44848257	SK-N-SH	brain:	n/a	chr21:44847244-44847259 chr21:44847244-44847259 chr21:44847201-44847215 chr21:44847246-44847261 chr21:44847244-44847259
7	POLR2A	chr21:44847673-44847889	GM12878	blood:	n/a	n/a
8	SMC3	chr21:44846904-44848434	Hela-S3	cervix:	n/a	n/a
9	SMC3	chr21:44846698-44847902	SK-N-SH	brain:	n/a	n/a
10	PAX5	chr21:44847473-44847893	GM12891	blood:	n/a	chr21:44847676-44847685 chr21:44847668-44847687
11	POLR2A	chr21:44846769-44847815	HEK293	kidney:	n/a	n/a
12	CTCF	chr21:44847660-44847810	GM12865	blood:	n/a	n/a
13	BACH1	chr21:44847278-44848020	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr21:44845613-44848741	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr21:44843825-44848789	MCF10A-Er-Src	breast:	n/a	n/a
16	RELA	chr21:44846952-44847793	GM18951	blood:	n/a	n/a
17	POLR2A	chr21:44847662-44847947	A549	lung:	n/a	n/a
18	ELF1	chr21:44846905-44847801	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:44843337-44848672	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr21:44847095-44847789	GM12878	blood:	n/a	n/a
21	MAFK	chr21:44847110-44848336	Hela-S3	cervix:	n/a	n/a
22	MYC	chr21:44846857-44847807	A549	lung:	n/a	chr21:44847245-44847254
23	CTCF	chr21:44846901-44848586	A549	lung:	n/a	n/a
24	CTCF	chr21:44846881-44848356	SK-N-SH	brain:	n/a	n/a
25	MYC	chr21:44846799-44848348	MCF10A-Er-Src	breast:	n/a	chr21:44847245-44847254
26	TCF12	chr21:44846866-44847812	ECC-1	luminal epithelium:	n/a	n/a
27	ZNF143	chr21:44846915-44847812	GM12878	blood:	n/a	chr21:44847172-44847182
28	POLR2A	chr21:44846690-44847924	GM18951	blood:	n/a	n/a
29	POLR2A	chr21:44846747-44847859	GM18526	blood:	n/a	n/a
30	POLR2A	chr21:44847326-44847953	A549	lung:	n/a	n/a
31	MAX	chr21:44847647-44848417	A549	lung:	n/a	n/a
32	E2F6	chr21:44846657-44847866	K562	blood:	n/a	chr21:44847764-44847774 chr21:44846732-44846741 chr21:44847267-44847276
33	CHD2	chr21:44846908-44848353	Hela-S3	cervix:	n/a	n/a
34	ELF1	chr21:44846929-44847939	GM12878	blood:	n/a	n/a
35	POLR2A	chr21:44846730-44847797	GM15510	blood:	n/a	n/a
36	ZBTB7A	chr21:44847156-44848024	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr21:44846650-44847774	HUVEC	blood vessel:	n/a	n/a
38	MXI1	chr21:44845493-44847899	IMR90	lung:	n/a	chr21:44847245-44847260 chr21:44847243-44847258
39	POLR2A	chr21:44831096-44848845	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr21:44847700-44847850	GM12869	blood:	n/a	n/a
41	MAX	chr21:44845769-44847926	K562	blood:	n/a	chr21:44847245-44847254
42	POLR2A	chr21:44845707-44848239	A549	lung:	n/a	n/a
43	MAZ	chr21:44845563-44848404	IMR90	lung:	n/a	chr21:44847245-44847254
44	POLR2A	chr21:44843910-44848744	IMR90	lung:	n/a	n/a
45	POLR2A	chr21:44846762-44847958	GM19099	blood:	n/a	n/a
46	TFAP2C	chr21:44847115-44848481	Hela-S3	cervix:	n/a	chr21:44847567-44847582
47	MTA3	chr21:44847359-44848112	GM12878	blood:	n/a	n/a
48	MAZ	chr21:44845791-44848321	Hela-S3	cervix:	n/a	chr21:44847245-44847254
49	ZBTB7A	chr21:44847161-44848178	ECC-1	luminal epithelium:	n/a	n/a
50	TFAP2A	chr21:44846887-44848417	Hela-S3	cervix:	n/a	chr21:44847407-44847418 chr21:44847568-44847579 chr21:44848168-44848182 chr21:44848166-44848181 chr21:44847808-44847816 chr21:44847805-44847817 chr21:44848168-44848182 chr21:44847602-44847613 chr21:44848168-44848182 chr21:44847966-44847978 chr21:44847808-44847816 chr21:44848171-44848179 chr21:44847568-44847579 chr21:44847168-44847183 chr21:44847602-44847613 chr21:44847568-44847579 chr21:44847808-44847816 chr21:44847568-44847579 chr21:44847602-44847613 chr21:44847602-44847613 chr21:44847807-44847822 chr21:44847567-44847581

No.	Distal block	Cell Line	Cell type
1	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
2	chr21:44847619..44848186-chr21:44866149..44867134,2	Hela-S3	cervix:
3	chr1:244614699..244615358-chr21:44847331..44848075,2	Hela-S3	cervix:
4	chr21:44847288..44848268-chr21:44923043..44923597,2	MCF-7	breast:
5	chr21:44596708..44597705-chr21:44847238..44847861,3	MCF-7	breast:
6	chr21:44847194..44850306-chr21:45028262..45031203,4	MCF-7	breast:
7	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:
8	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
9	chr21:44596497..44597381-chr21:44847015..44847854,5	K562	blood:
10	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
11	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:
12	chr17:62222897..62223818-chr21:44846604..44847770,3	Hela-S3	cervix:
13	chr21:44847451..44851718-chr21:44905935..44909722,5	MCF-7	breast:
14	chr21:44845672..44847781-chr6:26053868..26056749,2	MCF-7	breast:
15	chr21:44847637..44848138-chr21:44864331..44864965,2	Hela-S3	cervix:
16	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
17	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
18	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
19	chr16:3108783..3109454-chr21:44847676..44848561,2	Hela-S3	cervix:

Variant related genes	Relation type
SIK1	TF binding region
ENSG00000266402	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000237864	Chromatin interaction
ENSG00000261971	Chromatin interaction
ENSG00000237989	Chromatin interaction
ENSG00000225637	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000160202	Chromatin interaction
ENSG00000185186	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000188660	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
13	nsv913848	chr21:44817248-44848070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
15	nsv470902	chr21:44821867-44848069	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
16	nsv913851	chr21:44821867-44848070	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
17	nsv459283	chr21:44823479-44853859	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv587673	chr21:44823479-44853859	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv587674	chr21:44823479-44858534	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	51 gene(s)	inside rSNPs	diseases
20	nsv516339	chr21:44823479-44873060	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
21	nsv587680	chr21:44827526-44858534	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	51 gene(s)	inside rSNPs	diseases
22	nsv459284	chr21:44827526-44866913	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv587681	chr21:44827526-44866913	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv459286	chr21:44829058-44866913	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
25	nsv459287	chr21:44829058-44866913	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
26	nsv587682	chr21:44829058-44866913	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
27	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
28	nsv913853	chr21:44831981-44873017	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
29	nsv913854	chr21:44831981-44873060	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
30	nsv913855	chr21:44831981-44873795	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
31	nsv913856	chr21:44831981-44874702	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
32	nsv913857	chr21:44831981-44875495	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
33	nsv913858	chr21:44831981-44877881	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
34	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
35	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
36	nsv913861	chr21:44833854-44848070	Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
37	nsv913862	chr21:44833854-44877881	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
38	nsv913863	chr21:44834825-44858534	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	47 gene(s)	inside rSNPs	diseases
39	nsv913864	chr21:44834825-44860542	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
40	nsv459288	chr21:44835508-44870150	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
41	nsv587685	chr21:44835508-44870150	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
42	nsv913865	chr21:44835508-44873017	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
43	nsv913866	chr21:44835508-44874702	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
44	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
45	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
46	nsv913869	chr21:44837555-44871063	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
47	nsv828899	chr21:44838055-44864931	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
48	nsv828900	chr21:44838108-44852908	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
49	nsv828901	chr21:44838108-44873453	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
50	nsv828902	chr21:44839016-44860932	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

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	chr21:44844000-44848000	Active TSS	Brain Anterior Caudate	brain
6	chr21:44844400-44848000	Active TSS	Left Ventricle	heart
7	chr21:44844400-44848200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr21:44844600-44848200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr21:44844800-44847800	Active TSS	HSMMtube	muscle
10	chr21:44845200-44847800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr21:44845200-44848000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:44845400-44847800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:44845400-44847800	Active TSS	Liver	Liver
14	chr21:44845400-44847800	Active TSS	Osteobl	bone
15	chr21:44845400-44848000	Active TSS	Brain Angular Gyrus	brain
16	chr21:44845600-44847800	Active TSS	HSMM	muscle
17	chr21:44845600-44848000	Active TSS	Esophagus	oesophagus
18	chr21:44845600-44848000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr21:44845600-44848000	Active TSS	Small Intestine	intestine
20	chr21:44845600-44848200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr21:44845800-44847800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:44845800-44847800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:44845800-44847800	Active TSS	Primary B cells from peripheral blood	blood
24	chr21:44845800-44847800	Weak transcription	Fetal Heart	heart
25	chr21:44845800-44847800	Active TSS	Hela-S3	cervix
26	chr21:44845800-44848000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:44846000-44847800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr21:44846000-44847800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr21:44846000-44847800	Active TSS	Adipose Nuclei	Adipose
30	chr21:44846000-44847800	Active TSS	Brain Hippocampus Middle	brain
31	chr21:44846000-44847800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr21:44846000-44847800	Active TSS	Fetal Intestine Large	intestine
33	chr21:44846000-44847800	Active TSS	A549	lung
34	chr21:44846000-44848000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr21:44846000-44848000	Active TSS	Aorta	Aorta
36	chr21:44846000-44848000	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr21:44846000-44848000	Active TSS	K562	blood
38	chr21:44846000-44848200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:44846200-44847800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr21:44846200-44847800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr21:44846200-44847800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:44846200-44847800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:44846200-44847800	Active TSS	Brain Cingulate Gyrus	brain
44	chr21:44846200-44847800	Active TSS	Colonic Mucosa	Colon
45	chr21:44846200-44847800	Active TSS	Lung	lung
46	chr21:44846200-44847800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr21:44846200-44848000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:44846200-44848000	Active TSS	Psoas Muscle	Psoas
49	chr21:44846200-44848000	Active TSS	Right Ventricle	heart
50	chr21:44846200-44848000	Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links