Variant report

Variant	rs2236461
Chromosome Location	chr21:46897093-46897094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46895672..46900665-chr21:46900979..46909945,15	K562	blood:
2	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
3	chr21:46896313..46899192-chr21:46961154..46962755,2	K562	blood:
4	chr21:46886366..46889897-chr21:46896542..46899002,4	K562	blood:
5	chr21:46891833..46894369-chr21:46896586..46899393,2	MCF-7	breast:
6	chr21:46896308..46898985-chr21:46908445..46910505,2	K562	blood:
7	chr21:46893818..46895378-chr21:46895704..46898491,2	K562	blood:
8	chr19:2149910..2152771-chr21:46896335..46898616,2	MCF-7	breast:
9	chr21:46895487..46898063-chr21:46960831..46963373,2	MCF-7	breast:
10	chr21:46889693..46891470-chr21:46896677..46898959,2	MCF-7	breast:
11	chr21:46863098..46865222-chr21:46896487..46898859,2	K562	blood:
12	chr21:46893878..46896207-chr21:46896670..46900293,4	K562	blood:
13	chr21:46896740..46898482-chr21:46902488..46904592,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000065000	Chromatin interaction
ENSG00000182871	Chromatin interaction
ENSG00000173638	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11089003	0.93[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs11089009	0.84[AMR][1000 genomes]
rs11702425	0.94[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11909509	0.91[EUR][1000 genomes]
rs11909692	0.92[EUR][1000 genomes]
rs12482088	0.87[CEU][hapmap]
rs12482563	0.84[ASN][1000 genomes]
rs13049147	0.84[ASN][1000 genomes]
rs2236452	0.92[EUR][1000 genomes]
rs2236464	0.93[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2236470	0.87[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs2236471	0.85[ASN][1000 genomes]
rs2236472	0.87[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs2236473	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2274808	0.87[CEU][hapmap]
rs2838932	0.93[CEU][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2838935	0.93[EUR][1000 genomes]
rs2838936	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2838940	0.84[ASN][1000 genomes]
rs2838943	0.84[ASN][1000 genomes]
rs2838947	0.94[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28608951	0.82[ASN][1000 genomes]
rs6518245	0.94[CHB][hapmap];0.83[JPT][hapmap];0.97[EUR][1000 genomes]
rs731537	0.91[EUR][1000 genomes]
rs8133622	0.93[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs9974141	0.94[EUR][1000 genomes]
rs9975786	0.91[EUR][1000 genomes]
rs9976649	0.93[EUR][1000 genomes]
rs9976784	0.86[EUR][1000 genomes]
rs9976834	0.85[CEU][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9977268	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9977482	0.87[CEU][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs9979601	0.80[CEU][hapmap]
rs9979895	0.83[ASN][1000 genomes]
rs9980525	0.80[EUR][1000 genomes]
rs9980531	0.93[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9981397	0.96[EUR][1000 genomes]
rs9983675	0.97[EUR][1000 genomes]
rs9983783	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:82 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	nsv1059083	chr21:46855788-46964378	Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
46	nsv914050	chr21:46859717-46908355	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
47	nsv914051	chr21:46859717-46920504	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
48	nsv914052	chr21:46859717-46924785	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
49	nsv914053	chr21:46859717-46926054	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
50	esv1844740	chr21:46859717-46936958	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2236461	COL18A1	cis	Whole Blood	GTEx
rs2236461	SLC19A1	cis	lymphoblastoid	seeQTL
rs2236461	COL18A1	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46882800-46899000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:46891200-46897800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:46891600-46897400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46891600-46899800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:46891800-46897200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr21:46891800-46897800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:46891800-46897800	Weak transcription	Right Atrium	heart
8	chr21:46891800-46898200	Weak transcription	Colon Smooth Muscle	Colon
9	chr21:46891800-46906400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:46892000-46897400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:46892000-46897800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:46892000-46898000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46892000-46898200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:46892000-46898200	Weak transcription	Osteobl	bone
15	chr21:46892000-46898800	Weak transcription	NHDF-Ad	bronchial
16	chr21:46892000-46904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:46892200-46897800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:46892200-46898000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:46892200-46898000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:46892200-46898800	Weak transcription	HSMM	muscle
21	chr21:46892400-46907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:46892600-46898000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr21:46892600-46899000	Weak transcription	HMEC	breast
24	chr21:46892600-46907000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr21:46892800-46897800	Weak transcription	Colonic Mucosa	Colon
26	chr21:46892800-46898000	Weak transcription	NH-A	brain
27	chr21:46892800-46900000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:46892800-46908600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr21:46893000-46897200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:46893000-46897400	Weak transcription	Brain Angular Gyrus	brain
31	chr21:46893000-46897800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr21:46893000-46898000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr21:46893000-46909400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:46893000-46911200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:46893200-46897400	Weak transcription	Fetal Heart	heart
36	chr21:46893200-46897400	Strong transcription	Fetal Muscle Leg	muscle
37	chr21:46893200-46897800	Weak transcription	Brain Anterior Caudate	brain
38	chr21:46893200-46897800	Weak transcription	Brain Hippocampus Middle	brain
39	chr21:46893200-46897800	Weak transcription	Brain Substantia Nigra	brain
40	chr21:46893200-46897800	Weak transcription	Fetal Intestine Small	intestine
41	chr21:46893400-46898000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr21:46893600-46904800	Strong transcription	A549	lung
43	chr21:46893600-46907600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:46893800-46897200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr21:46894000-46897800	Strong transcription	Liver	Liver
46	chr21:46894000-46904800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:46894000-46905000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:46894200-46897400	Strong transcription	Fetal Stomach	stomach
49	chr21:46894200-46907400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr21:46894400-46897400	Strong transcription	Adipose Nuclei	Adipose

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