Variant report

Variant	rs56015857
Chromosome Location	chr21:44866777-44866778
allele	A/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	MAZ	chr21:44865563-44866984	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
2	MAX	chr21:44865736-44867006	HCT-116	colon:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
3	ZBTB7A	chr21:44866527-44866785	K562	blood:	n/a	n/a
4	TCF12	chr21:44865829-44867904	ECC-1	luminal epithelium:	n/a	chr21:44865937-44865947
5	SMC3	chr21:44865537-44867155	Hela-S3	cervix:	n/a	chr21:44865874-44865884 chr21:44865874-44865888 chr21:44865881-44865888
6	POLR2A	chr21:44866074-44866779	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr21:44866465-44866834	H1-hESC	embryonic stem cell:	n/a	n/a
8	USF1	chr21:44866050-44866866	HCT-116	colon:	n/a	n/a
9	CTCF	chr21:44866535-44866788	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr21:44865641-44866835	Hela-S3	cervix:	n/a	n/a
11	MAX	chr21:44865982-44866888	K562	blood:	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
12	RAD21	chr21:44866509-44866778	K562	blood:	n/a	n/a
13	RFX5	chr21:44865801-44867113	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr21:44866475-44866851	K562	blood:	n/a	n/a
15	TCF7L2	chr21:44865975-44867029	Hela-S3	cervix:	n/a	n/a
16	SP1	chr21:44865895-44866855	A549	lung:	n/a	chr21:44866260-44866274 chr21:44866084-44866096 chr21:44866085-44866094 chr21:44866084-44866096 chr21:44866046-44866060
17	POLR2A	chr21:44864644-44867800	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr21:44865572-44866980	Hela-S3	cervix:	n/a	chr21:44865874-44865888 chr21:44865575-44865585 chr21:44866014-44866028
19	MAX	chr21:44865843-44867891	ECC-1	luminal epithelium:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
20	SMARCB1	chr21:44863164-44866969	Hela-S3	cervix:	n/a	chr21:44864827-44864836
21	CTCF	chr21:44866526-44866787	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:44865213-44867066	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr21:44866660-44866810	GM12865	blood:	n/a	n/a
24	CBX3	chr21:44866403-44866797	K562	blood:	n/a	n/a
25	SMC3	chr21:44866527-44866830	K562	blood:	n/a	n/a
26	E2F6	chr21:44865769-44867103	Hela-S3	cervix:	n/a	chr21:44866086-44866095 chr21:44866371-44866382
27	ZNF143	chr21:44865720-44866847	Hela-S3	cervix:	n/a	chr21:44866358-44866368
28	NR3C1	chr21:44865772-44866804	A549	lung:	n/a	n/a
29	TEAD4	chr21:44866052-44866833	ECC-1	luminal epithelium:	n/a	n/a
30	CREB1	chr21:44865871-44866782	A549	lung:	n/a	n/a
31	CHD2	chr21:44865773-44867052	Hela-S3	cervix:	n/a	n/a
32	MAX	chr21:44865757-44867901	ECC-1	luminal epithelium:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
33	NFYA	chr21:44865964-44866836	Hela-S3	cervix:	n/a	n/a
34	GATA3	chr21:44865764-44866815	A549	lung:	n/a	n/a
35	POLR2A	chr21:44864435-44867776	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr21:44865262-44867083	Hela-S3	cervix:	n/a	n/a
37	TBP	chr21:44865838-44867049	Hela-S3	cervix:	n/a	n/a
38	MAX	chr21:44865494-44867101	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
39	GTF2F1	chr21:44865650-44867118	Hela-S3	cervix:	n/a	n/a
40	E2F4	chr21:44865910-44866867	MCF10A-Er-Src	breast:	n/a	chr21:44866086-44866095
41	CTCF	chr21:44866447-44866843	K562	blood:	n/a	n/a
42	MXI1	chr21:44865567-44866923	Hela-S3	cervix:	n/a	chr21:44865937-44865946
43	ELK1	chr21:44865801-44866782	Hela-S3	cervix:	n/a	n/a
44	EP300	chr21:44865907-44866984	Hela-S3	cervix:	n/a	chr21:44866074-44866090
45	EP300	chr21:44865815-44866844	ECC-1	luminal epithelium:	n/a	chr21:44866074-44866090
46	POLR2A	chr21:44860463-44867586	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr21:44865751-44867150	Hela-S3	cervix:	n/a	n/a
48	USF1	chr21:44865963-44866779	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr21:44866470-44866886	K562	blood:	n/a	n/a
50	ZKSCAN1	chr21:44865776-44867135	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
2	chr21:44845514..44848282-chr21:44863582..44866798,3	MCF-7	breast:
3	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
4	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
5	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
6	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:
7	chr1:70819842..70820538-chr21:44865952..44866901,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44866481-44866779	XLOC_013964
2	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407
3	lnc-RRP1B-3	chr21:44866744-44866779	NONHSAT082409

Variant related genes	Relation type
LINC00319	TF binding region
ENSG00000188660	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000197568	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	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626351	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626369	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626667	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626693	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626954	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626999	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627012	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004551	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004552	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17004553	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17004554	0.94[ASN][1000 genomes]
rs17004555	0.94[ASN][1000 genomes]
rs1865757	0.89[AMR][1000 genomes];0.97[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]
rs56176112	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56243743	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58427549	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587087	0.80[ASN][1000 genomes]
rs58867020	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776855	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60878920	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61001215	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6518212	0.92[ASN][1000 genomes]
rs7279895	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281089	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281094	0.92[ASN][1000 genomes]
rs7281188	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282498	0.98[ASN][1000 genomes]
rs73223039	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223040	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223041	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73223042	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223043	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223044	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223046	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131995	0.92[ASN][1000 genomes]
rs9647237	0.92[ASN][1000 genomes]
rs9680399	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982011	0.86[ASN][1000 genomes]
rs9982824	0.85[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44856800-44873200	Enhancers	Placenta	Placenta
2	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
3	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:44861800-44869200	Weak transcription	Fetal Brain Female	brain
5	chr21:44862000-44870400	Enhancers	A549	lung
6	chr21:44862200-44866800	Weak transcription	Liver	Liver
7	chr21:44862600-44868200	Enhancers	Spleen	Spleen
8	chr21:44862800-44867000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr21:44863200-44867600	Weak transcription	Left Ventricle	heart
10	chr21:44863400-44877200	Weak transcription	Right Atrium	heart
11	chr21:44864200-44868800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:44864400-44867400	Enhancers	Stomach Mucosa	stomach
13	chr21:44864400-44868800	Enhancers	Lung	lung
14	chr21:44864600-44867200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr21:44864800-44866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:44864800-44866800	Weak transcription	HMEC	breast
17	chr21:44864800-44867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:44864800-44867000	Weak transcription	Fetal Brain Male	brain
19	chr21:44864800-44868400	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr21:44864800-44870000	Weak transcription	HSMM	muscle
21	chr21:44865000-44869600	Weak transcription	HSMMtube	muscle
22	chr21:44865000-44869800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr21:44865000-44873800	Weak transcription	GM12878-XiMat	blood
24	chr21:44865200-44867400	Enhancers	Fetal Intestine Large	intestine
25	chr21:44865200-44869600	Weak transcription	Fetal Lung	lung
26	chr21:44865400-44866800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:44865600-44867200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:44865600-44867200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr21:44865800-44866800	Active TSS	Hela-S3	cervix
30	chr21:44865800-44867200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:44866000-44866800	Weak transcription	Gastric	stomach
32	chr21:44866000-44867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr21:44866000-44867000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr21:44866000-44868400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:44866000-44868400	Weak transcription	HepG2	liver
36	chr21:44866200-44866800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:44866200-44867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:44866200-44868000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr21:44866200-44873400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr21:44866400-44866800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr21:44866400-44866800	Enhancers	Fetal Thymus	thymus
42	chr21:44866400-44866800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr21:44866400-44867000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:44866400-44867000	Flanking Active TSS	NHEK	skin
45	chr21:44866400-44867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:44866600-44867200	Flanking Active TSS	Pancreas	Pancrea
47	chr21:44866600-44867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:44866600-44867800	Enhancers	Esophagus	oesophagus
49	chr21:44866600-44867800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr21:44866600-44872200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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