Variant report

Variant	rs73223040
Chromosome Location	chr21:44865437-44865438
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	POLR2A	chr21:44864644-44867800	MCF10A-Er-Src	breast:	n/a	n/a
2	SMARCB1	chr21:44863164-44866969	Hela-S3	cervix:	n/a	chr21:44864827-44864836
3	POLR2A	chr21:44865213-44867066	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr21:44864435-44867776	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr21:44865262-44867083	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:44860463-44867586	Hela-S3	cervix:	n/a	n/a
7	TFAP2C	chr21:44865405-44866763	Hela-S3	cervix:	n/a	chr21:44865721-44865736
8	STAT1	chr21:44864681-44866878	Hela-S3	cervix:	n/a	chr21:44865217-44865226 chr21:44865212-44865232 chr21:44865216-44865227 chr21:44865215-44865229 chr21:44865854-44865866 chr21:44866376-44866388 chr21:44865218-44865227 chr21:44865212-44865232 chr21:44866392-44866404 chr21:44865218-44865226
9	MYC	chr21:44865399-44866835	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
10	POLR2A	chr21:44864344-44867439	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45266574..45267127-chr21:44864899..44865582,2	Hela-S3	cervix:
2	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
3	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
4	chr12:64237911..64238461-chr21:44865344..44866127,2	Hela-S3	cervix:
5	chr21:44865001..44865628-chr7:7222151..7222751,2	Hela-S3	cervix:
6	chr21:44863698..44865894-chr21:44867364..44869009,2	K562	blood:
7	chr16:25268818..25269473-chr21:44865000..44865891,2	Hela-S3	cervix:
8	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
9	chr1:212731654..212732474-chr21:44864940..44865899,2	Hela-S3	cervix:
10	chr11:46258674..46259334-chr21:44865342..44866086,2	Hela-S3	cervix:
11	chr21:38444953..38445504-chr21:44865349..44866176,2	Hela-S3	cervix:
12	chr21:44864230..44866337-chr21:44922192..44925093,2	MCF-7	breast:
13	chr21:44855996..44858393-chr21:44863025..44865535,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407

Variant related genes	Relation type
LINC00319	TF binding region
ENSG00000142178	Chromatin interaction
ENSG00000185808	Chromatin interaction
ENSG00000155592	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000196935	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11088981	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626351	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626667	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626999	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004551	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004552	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17004553	0.94[ASN][1000 genomes]
rs17004554	0.94[ASN][1000 genomes]
rs17004555	0.94[ASN][1000 genomes]
rs1865757	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865758	1.00[ASN][1000 genomes]
rs2838305	0.94[ASN][1000 genomes]
rs364326	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs476861	0.80[ASN][1000 genomes]
rs529770	0.80[ASN][1000 genomes]
rs56015857	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176112	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56243743	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58427549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587087	0.80[ASN][1000 genomes]
rs58867020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776855	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60878920	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61001215	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518212	0.92[ASN][1000 genomes]
rs7279895	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281089	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281094	0.92[ASN][1000 genomes]
rs7281188	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282498	0.98[ASN][1000 genomes]
rs73223039	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223041	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73223042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223043	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223044	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131995	0.92[ASN][1000 genomes]
rs9647237	0.92[ASN][1000 genomes]
rs9680399	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982011	0.86[ASN][1000 genomes]
rs9982824	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	nsv587686	chr21:44848070-44871189	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv913870	chr21:44848070-44875495	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
38	nsv913871	chr21:44858534-44874702	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
39	nsv587687	chr21:44860542-44874702	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
40	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
41	nsv587688	chr21:44864079-44874702	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
42	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44856800-44873200	Enhancers	Placenta	Placenta
2	chr21:44857400-44866000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
4	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:44861200-44865800	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:44861600-44866400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:44861800-44869200	Weak transcription	Fetal Brain Female	brain
8	chr21:44862000-44870400	Enhancers	A549	lung
9	chr21:44862200-44866800	Weak transcription	Liver	Liver
10	chr21:44862600-44868200	Enhancers	Spleen	Spleen
11	chr21:44862800-44867000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr21:44863200-44867600	Weak transcription	Left Ventricle	heart
13	chr21:44863400-44865800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr21:44863400-44877200	Weak transcription	Right Atrium	heart
15	chr21:44863600-44865800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:44863600-44866400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:44863800-44865600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:44863800-44865800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:44863800-44866400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr21:44864000-44865600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:44864000-44865600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:44864200-44865800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr21:44864200-44868800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr21:44864400-44865600	Enhancers	Colonic Mucosa	Colon
25	chr21:44864400-44867400	Enhancers	Stomach Mucosa	stomach
26	chr21:44864400-44868800	Enhancers	Lung	lung
27	chr21:44864600-44865600	Enhancers	Primary hematopoietic stem cells	blood
28	chr21:44864600-44865600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr21:44864600-44865600	Enhancers	NHEK	skin
30	chr21:44864600-44865800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr21:44864600-44867200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr21:44864800-44865600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr21:44864800-44865800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:44864800-44865800	Flanking Active TSS	Hela-S3	cervix
35	chr21:44864800-44866000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr21:44864800-44866000	Enhancers	Fetal Thymus	thymus
37	chr21:44864800-44866000	Enhancers	HepG2	liver
38	chr21:44864800-44866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:44864800-44866800	Weak transcription	HMEC	breast
40	chr21:44864800-44867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:44864800-44867000	Weak transcription	Fetal Brain Male	brain
42	chr21:44864800-44868400	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr21:44864800-44870000	Weak transcription	HSMM	muscle
44	chr21:44865000-44865600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr21:44865000-44865800	Enhancers	Small Intestine	intestine
46	chr21:44865000-44866000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr21:44865000-44869600	Weak transcription	HSMMtube	muscle
48	chr21:44865000-44869800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr21:44865000-44873800	Weak transcription	GM12878-XiMat	blood
50	chr21:44865200-44866000	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links