Variant report

Variant	rs534414937
Chromosome Location	chr21:44846263-44846264
allele	C/G
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	HDAC2	chr21:44845944-44846274	HepG2	liver:	n/a	n/a
3	POLR2A	chr21:44845783-44846668	GM12878	blood:	n/a	n/a
4	ZBTB7A	chr21:44845704-44846879	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr21:44845609-44846748	ECC-1	luminal epithelium:	n/a	n/a
6	GATA3	chr21:44845690-44846729	A549	lung:	n/a	chr21:44845692-44845703
7	POLR2A	chr21:44845613-44848741	HUVEC	blood vessel:	n/a	n/a
8	GATA3	chr21:44843804-44847652	A549	lung:	n/a	chr21:44845692-44845703
9	POLR2A	chr21:44843825-44848789	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr21:44845779-44846331	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:44843337-44848672	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr21:44845149-44846639	SK-N-SH	brain:	n/a	n/a
13	RUNX3	chr21:44845892-44846275	GM12878	blood:	n/a	n/a
14	PBX3	chr21:44845544-44846716	A549	lung:	n/a	n/a
15	TCF3	chr21:44846253-44846546	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:44845742-44847034	A549	lung:	n/a	n/a
17	NR3C1	chr21:44845763-44846672	A549	lung:	n/a	chr21:44846148-44846161
18	PAX5	chr21:44845757-44846276	GM12892	blood:	n/a	chr21:44846105-44846114
19	CTCF	chr21:44845861-44846290	K562	blood:	n/a	n/a
20	CTCF	chr21:44846140-44846290	GM12875	blood:	n/a	n/a
21	POLR2A	chr21:44845749-44847093	A549	lung:	n/a	n/a
22	POLR2A	chr21:44845722-44846585	Hela-S3	cervix:	n/a	n/a
23	MAX	chr21:44845698-44846699	MCF-7	breast:	n/a	n/a
24	JUND	chr21:44845696-44846681	A549	lung:	n/a	chr21:44846595-44846604
25	MAX	chr21:44845848-44846622	A549	lung:	n/a	n/a
26	CTCF	chr21:44846120-44846270	K562	blood:	n/a	n/a
27	POLR2A	chr21:44846197-44846522	GM12878	blood:	n/a	n/a
28	CTCF	chr21:44846260-44846410	AG04449	skin:	n/a	chr21:44846314-44846327
29	MXI1	chr21:44845493-44847899	IMR90	lung:	n/a	chr21:44847245-44847260 chr21:44847243-44847258
30	POLR2A	chr21:44831096-44848845	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr21:44845949-44846337	HepG2	liver:	n/a	n/a
32	PBX3	chr21:44845717-44847439	A549	lung:	n/a	n/a
33	POLR2A	chr21:44845705-44847058	A549	lung:	n/a	n/a
34	MAX	chr21:44845769-44847926	K562	blood:	n/a	chr21:44847245-44847254
35	POLR2A	chr21:44845707-44848239	A549	lung:	n/a	n/a
36	MAZ	chr21:44845563-44848404	IMR90	lung:	n/a	chr21:44847245-44847254
37	CHD2	chr21:44846062-44846700	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr21:44843910-44848744	IMR90	lung:	n/a	n/a
39	CTCF	chr21:44845920-44846361	GM12878	blood:	n/a	chr21:44846314-44846327
40	CTCF	chr21:44846140-44846290	GM12870	blood:	n/a	n/a
41	HMGN3	chr21:44845772-44846430	K562	blood:	n/a	n/a
42	EGR1	chr21:44845804-44846322	K562	blood:	n/a	chr21:44846243-44846253 chr21:44846238-44846253 chr21:44846104-44846117 chr21:44846189-44846199 chr21:44846108-44846118 chr21:44846239-44846252 chr21:44846240-44846249 chr21:44846239-44846252 chr21:44846239-44846252 chr21:44846239-44846249
43	MAZ	chr21:44845791-44848321	Hela-S3	cervix:	n/a	chr21:44847245-44847254
44	SP1	chr21:44843698-44846777	A549	lung:	n/a	chr21:44846592-44846604 chr21:44846236-44846248 chr21:44846593-44846603 chr21:44846730-44846742 chr21:44846236-44846248 chr21:44846592-44846604 chr21:44846593-44846602 chr21:44846237-44846246 chr21:44846237-44846247
45	POLR2A	chr21:44827963-44846612	A549	lung:	n/a	n/a
46	CTCF	chr21:44846260-44846410	GM12865	blood:	n/a	chr21:44846314-44846327
47	HDAC2	chr21:44845657-44846688	MCF-7	breast:	n/a	n/a
48	POLR2A	chr21:44845621-44846806	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr21:44845608-44846572	H1-neurons	neurons:	n/a	n/a
50	MAX	chr21:44845610-44848504	A549	lung:	n/a	chr21:44847245-44847254

No.	Distal block	Cell Line	Cell type
1	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
2	chr21:44816118..44817862-chr21:44843966..44846945,3	MCF-7	breast:
3	chr12:121837471..121838436-chr21:44846036..44846937,2	Hela-S3	cervix:
4	chr15:65588231..65589027-chr21:44846151..44846952,2	Hela-S3	cervix:
5	chr21:44844513..44847028-chr21:44896090..44898476,3	MCF-7	breast:
6	chr21:44845919..44846463-chr9:124048978..124049560,2	Hela-S3	cervix:
7	chr2:96874025..96874658-chr21:44845924..44846868,2	Hela-S3	cervix:
8	chr21:44845968..44846741-chr21:44922767..44923697,3	MCF-7	breast:
9	chr21:44735164..44735664-chr21:44845974..44846544,2	MCF-7	breast:
10	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
11	chr21:44845959..44846859-chr21:44922952..44923553,2	Hela-S3	cervix:
12	chr21:44748879..44756198-chr21:44843023..44848924,8	MCF-7	breast:
13	chr21:44845300..44847878-chr21:44896244..44899559,5	MCF-7	breast:
14	chr21:44846143..44846708-chr5:271575..272299,2	Hela-S3	cervix:
15	chr21:44788113..44790073-chr21:44844727..44846264,2	MCF-7	breast:
16	chr21:44845672..44847781-chr6:26053868..26056749,2	MCF-7	breast:
17	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
18	chr21:44393394..44395393-chr21:44845863..44848576,2	MCF-7	breast:
19	chr21:44586813..44589241-chr21:44845396..44848609,3	MCF-7	breast:
20	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:

Variant related genes	Relation type
SIK1	TF binding region
ENSG00000185186	Chromatin interaction
ENSG00000160202	Chromatin interaction
ENSG00000188660	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000237864	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000248925	Chromatin interaction
ENSG00000160199	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:56 , 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:126 , 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	chr21:44844000-44846400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr21:44844000-44846600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr21:44844000-44846600	Bivalent/Poised TSS	Thymus	Thymus
8	chr21:44844000-44848000	Active TSS	Brain Anterior Caudate	brain
9	chr21:44844400-44847400	Active TSS	Pancreas	Pancrea
10	chr21:44844400-44848000	Active TSS	Left Ventricle	heart
11	chr21:44844400-44848200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr21:44844600-44846600	Active TSS	Rectal Smooth Muscle	rectum
13	chr21:44844600-44848200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr21:44844800-44847400	Active TSS	HMEC	breast
15	chr21:44844800-44847800	Active TSS	HSMMtube	muscle
16	chr21:44845000-44846400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr21:44845200-44846400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr21:44845200-44846800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr21:44845200-44847600	Active TSS	Gastric	stomach
20	chr21:44845200-44847800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr21:44845200-44848000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:44845400-44846400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:44845400-44846400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr21:44845400-44846800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr21:44845400-44847800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:44845400-44847800	Active TSS	Liver	Liver
27	chr21:44845400-44847800	Active TSS	Osteobl	bone
28	chr21:44845400-44848000	Active TSS	Brain Angular Gyrus	brain
29	chr21:44845600-44846400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr21:44845600-44846400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:44845600-44846400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:44845600-44846400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
33	chr21:44845600-44846400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:44845600-44846400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr21:44845600-44846600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr21:44845600-44846600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr21:44845600-44847600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr21:44845600-44847800	Active TSS	HSMM	muscle
43	chr21:44845600-44848000	Active TSS	Esophagus	oesophagus
44	chr21:44845600-44848000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr21:44845600-44848000	Active TSS	Small Intestine	intestine
46	chr21:44845600-44848200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr21:44845800-44846400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:44845800-44846400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:44845800-44846400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr21:44845800-44846400	Flanking Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links