Variant report

Variant	rs4819117
Chromosome Location	chr21:46878714-46878715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46850154..46853223-chr21:46875562..46879101,3	MCF-7	breast:
2	chr21:46867261..46870144-chr21:46877850..46880739,2	MCF-7	breast:
3	chr21:46878562..46881636-chr21:46881861..46885635,3	K562	blood:
4	chr21:46874922..46876910-chr21:46877464..46880044,2	K562	blood:
5	chr21:46595747..46597935-chr21:46877376..46878975,2	K562	blood:
6	chr21:46878521..46881227-chr21:46884366..46886401,3	MCF-7	breast:
7	chr21:46876629..46878808-chr21:46954301..46956325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173638	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000182871	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12329823	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2015673	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2183590	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2230687	0.91[EUR][1000 genomes]
rs2230688	0.87[EUR][1000 genomes]
rs2236462	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236463	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2282117	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2838933	0.85[ASN][1000 genomes]
rs4818778	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4818780	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4819106	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819110	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819112	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819113	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819114	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819115	0.97[ASN][1000 genomes]
rs4819116	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4819118	0.99[ASN][1000 genomes]
rs4819119	0.99[ASN][1000 genomes]
rs4819120	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819121	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58750109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60375909	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60458221	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60930826	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216300	0.86[ASN][1000 genomes]
rs62216303	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216305	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216306	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216319	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216320	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216324	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67349611	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68033347	0.86[ASN][1000 genomes]
rs7279077	0.85[ASN][1000 genomes]
rs7283255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8127363	0.98[EUR][1000 genomes]
rs8134314	0.97[ASN][1000 genomes]
rs9306128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9653789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974623	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9977280	0.96[ASN][1000 genomes]
rs9979599	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9981843	0.86[ASN][1000 genomes]
rs9985167	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1063721	chr21:46610599-46907894	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1059779	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv544485	chr21:46611859-46891352	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv914001	chr21:46647078-46944113	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
6	nsv914002	chr21:46655638-46945024	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057807	chr21:46656346-47077374	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
8	esv2762114	chr21:46680202-47067744	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
9	nsv914009	chr21:46684517-46908355	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
10	nsv1057661	chr21:46687476-46961041	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
11	nsv914012	chr21:46695039-47015661	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
12	nsv1060369	chr21:46719445-46882338	Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
14	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
15	esv1799934	chr21:46737751-46959154	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	42 gene(s)	inside rSNPs	diseases
16	nsv1057607	chr21:46753333-46883158	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1060671	chr21:46754466-46882338	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv544487	chr21:46754466-46882338	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv914027	chr21:46765580-46982335	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
20	esv1794926	chr21:46781404-46965534	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
21	nsv914031	chr21:46802952-46952750	Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
22	nsv914034	chr21:46809884-46903021	Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
23	nsv914035	chr21:46816363-46912386	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
24	nsv914036	chr21:46816363-46936958	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
25	nsv914037	chr21:46816363-46982335	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
26	nsv914038	chr21:46817380-46964378	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
27	nsv914039	chr21:46818782-46912386	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
28	nsv914040	chr21:46818782-46936423	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
29	nsv1058685	chr21:46819364-46967996	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
30	nsv914041	chr21:46821907-46899119	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
31	nsv914042	chr21:46821907-46919132	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
32	nsv914043	chr21:46821907-46936958	Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
33	nsv914044	chr21:46821907-46982335	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
34	nsv1056917	chr21:46822253-46976682	Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
35	nsv1061626	chr21:46830542-46961041	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
36	nsv914045	chr21:46830873-46931109	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
37	nsv914046	chr21:46830873-46982335	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
38	nsv516407	chr21:46830873-47040656	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
39	nsv914047	chr21:46834814-46904833	Strong transcription Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
40	nsv1066282	chr21:46839570-46966180	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
41	nsv1057447	chr21:46839570-46976682	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
42	nsv914048	chr21:46839904-47032872	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
43	nsv834111	chr21:46843086-47005244	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
44	nsv587845	chr21:46846015-46897221	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
45	nsv587846	chr21:46846944-46899119	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
46	esv1841607	chr21:46846944-46970385	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
47	nsv1062107	chr21:46847759-46976682	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
48	esv1822272	chr21:46848326-47038855	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
49	nsv587847	chr21:46848589-46903021	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
50	nsv914049	chr21:46848589-46982335	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46859800-46880000	Weak transcription	HUVEC	blood vessel
2	chr21:46860000-46888200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:46862000-46887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46866600-46880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:46868600-46881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:46873000-46879600	Weak transcription	A549	lung
7	chr21:46873000-46879800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr21:46873400-46879800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46873400-46880600	Weak transcription	K562	blood
10	chr21:46873400-46880800	Weak transcription	Fetal Kidney	kidney
11	chr21:46873400-46881600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46874800-46879400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:46875400-46879200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:46875400-46880400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:46875600-46880000	Weak transcription	NHDF-Ad	bronchial
16	chr21:46875600-46881400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:46875800-46879600	Weak transcription	Fetal Intestine Small	intestine
18	chr21:46875800-46879800	Weak transcription	Aorta	Aorta
19	chr21:46875800-46880000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:46876000-46879600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:46876000-46879600	Weak transcription	Fetal Intestine Large	intestine
22	chr21:46876000-46879600	Weak transcription	NH-A	brain
23	chr21:46876000-46880000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:46876000-46880000	Weak transcription	Osteobl	bone
25	chr21:46876000-46886800	Weak transcription	NHEK	skin
26	chr21:46876200-46878800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:46876200-46879000	Enhancers	Fetal Muscle Leg	muscle
28	chr21:46876200-46880000	Weak transcription	HMEC	breast
29	chr21:46876200-46880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:46876200-46887800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr21:46876400-46879800	Weak transcription	Ovary	ovary
32	chr21:46876400-46880000	Weak transcription	Lung	lung
33	chr21:46876400-46880000	Weak transcription	NHLF	lung
34	chr21:46876400-46880200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:46876400-46881000	Weak transcription	Pancreas	Pancrea
36	chr21:46876400-46881600	Weak transcription	Fetal Heart	heart
37	chr21:46876400-46887800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:46876400-46888400	Weak transcription	Left Ventricle	heart
39	chr21:46877000-46879800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:46877400-46878800	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr21:46877400-46879400	Enhancers	Spleen	Spleen
42	chr21:46877400-46881000	Weak transcription	Adipose Nuclei	Adipose
43	chr21:46877400-46881400	Enhancers	HSMM	muscle
44	chr21:46877400-46883200	Weak transcription	Gastric	stomach
45	chr21:46877400-46888000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr21:46877600-46878800	Bivalent Enhancer	Colonic Mucosa	Colon
47	chr21:46877600-46879400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:46877600-46879600	Weak transcription	Fetal Stomach	stomach
49	chr21:46877600-46881200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:46877800-46880400	Weak transcription	Fetal Lung	lung

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