Variant report

Variant	rs476861
Chromosome Location	chr21:44835508-44835509
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44826966..44831025-chr21:44834316..44837805,5	K562	blood:
2	chr11:66845412..66846012-chr21:44835009..44836001,2	Hela-S3	cervix:
3	chr21:44835183..44837638-chr21:45079405..45081633,2	K562	blood:
4	chr21:44829643..44831600-chr21:44834056..44835815,3	MCF-7	breast:
5	chr21:44762637..44765134-chr21:44833534..44838012,6	MCF-7	breast:
6	chr21:44818567..44821286-chr21:44833722..44837322,3	MCF-7	breast:
7	chr10:59675342..59676099-chr21:44834961..44835685,2	Hela-S3	cervix:
8	chr21:44835215..44837939-chr21:44907787..44909882,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 170 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11088981	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs12626351	0.80[ASN][1000 genomes]
rs12626369	0.80[ASN][1000 genomes]
rs12626667	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12626693	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12626954	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[ASN][1000 genomes]
rs12626999	0.80[ASN][1000 genomes]
rs12627012	0.80[ASN][1000 genomes]
rs17004551	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[ASN][1000 genomes]
rs17004552	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap]
rs17004553	0.90[JPT][hapmap]
rs17004554	0.90[JPT][hapmap]
rs17004555	0.90[JPT][hapmap]
rs1865757	0.88[CHB][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap]
rs1865758	0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs229344	1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs229346	0.91[CEU][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs230634	0.90[JPT][hapmap]
rs2838305	0.90[JPT][hapmap]
rs3366	0.98[ASN][1000 genomes]
rs364326	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs430554	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs495827	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs496799	0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs529770	0.92[ASW][hapmap];0.91[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs548250	0.84[CEU][hapmap]
rs56015857	0.80[ASN][1000 genomes]
rs56171424	0.81[AFR][1000 genomes]
rs56176112	0.83[ASN][1000 genomes]
rs56243743	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575818	1.00[CHB][hapmap]
rs58427549	0.80[ASN][1000 genomes]
rs587087	0.88[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58867020	0.80[ASN][1000 genomes]
rs59776855	0.83[ASN][1000 genomes]
rs60878920	0.80[ASN][1000 genomes]
rs643853	0.90[JPT][hapmap]
rs6518212	0.90[JPT][hapmap]
rs7278589	0.89[CHB][hapmap]
rs7279895	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7281089	0.90[JPT][hapmap]
rs7281094	0.90[JPT][hapmap]
rs7281188	0.83[ASN][1000 genomes]
rs7282229	0.88[CHB][hapmap]
rs7282498	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73223039	0.80[ASN][1000 genomes]
rs73223040	0.80[ASN][1000 genomes]
rs73223042	0.80[ASN][1000 genomes]
rs73223043	0.80[ASN][1000 genomes]
rs73223044	0.80[ASN][1000 genomes]
rs73223046	0.80[ASN][1000 genomes]
rs8131995	0.90[JPT][hapmap]
rs857551	0.89[CHB][hapmap]
rs9647237	0.90[JPT][hapmap]
rs9680399	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs9982011	0.90[JPT][hapmap]
rs9982824	0.81[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
12	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
13	nsv913848	chr21:44817248-44848070	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
15	esv1795905	chr21:44820999-44837533	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	esv1819475	chr21:44820999-44837533	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv1851649	chr21:44820999-44837533	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv820461	chr21:44821113-44838810	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	esv1823841	chr21:44821199-44837333	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	esv1793470	chr21:44821199-44838738	Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
21	esv1799259	chr21:44821199-44838738	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
22	esv1813433	chr21:44821199-44838738	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
23	esv1830848	chr21:44821199-44838738	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	esv1849312	chr21:44821199-44838738	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	esv1818512	chr21:44821199-44841225	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
26	esv1845794	chr21:44821199-44841225	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
27	esv32887	chr21:44821225-44839128	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
28	nsv828883	chr21:44821563-44838810	Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
29	esv1823170	chr21:44821595-44837766	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
30	nsv587668	chr21:44821867-44835508	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
31	nsv459280	chr21:44821867-44839682	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
32	nsv587669	chr21:44821867-44839682	Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
33	nsv913850	chr21:44821867-44839682	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases
34	nsv470902	chr21:44821867-44848069	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
35	nsv913851	chr21:44821867-44848070	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	48 gene(s)	inside rSNPs	diseases
36	esv2760703	chr21:44822257-44842623	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
37	esv1826084	chr21:44822330-44837533	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
38	esv1826004	chr21:44822504-44838738	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
39	esv10863	chr21:44822523-44838545	Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
40	nsv819251	chr21:44822576-44836679	Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
41	nsv828884	chr21:44822727-44837377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
42	nsv828885	chr21:44822727-44837810	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
43	nsv828887	chr21:44822727-44838406	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
44	nsv828888	chr21:44822727-44838414	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
45	esv1802570	chr21:44822751-44837533	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
46	esv1809807	chr21:44822751-44837533	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
47	esv1813478	chr21:44822751-44837533	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
48	esv1828738	chr21:44822751-44837533	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
49	esv1850417	chr21:44822751-44837533	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
50	esv1819136	chr21:44822751-44838938	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs476861	CRYAA	cis	cerebellum	SCAN
rs476861	MX1	cis	cerebellum	SCAN
rs476861	BRWD1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44829000-44836600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr21:44829600-44836600	Weak transcription	Brain Anterior Caudate	brain
3	chr21:44830200-44837200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr21:44830400-44837200	Enhancers	Primary B cells from cord blood	blood
5	chr21:44830400-44837600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:44830800-44837800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr21:44831000-44836600	Weak transcription	Ovary	ovary
8	chr21:44831200-44836400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:44831400-44838200	Weak transcription	HUVEC	blood vessel
10	chr21:44831400-44844000	Weak transcription	Right Atrium	heart
11	chr21:44832000-44835800	Weak transcription	Osteobl	bone
12	chr21:44832000-44836200	Weak transcription	Small Intestine	intestine
13	chr21:44832200-44836400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:44832400-44837600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:44832600-44836400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:44832600-44836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:44832600-44836600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:44832600-44842200	Weak transcription	K562	blood
19	chr21:44833000-44842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:44833200-44836200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:44833200-44836400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:44833200-44836800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:44833200-44838800	Strong transcription	HSMMtube	muscle
24	chr21:44833200-44842200	Strong transcription	Psoas Muscle	Psoas
25	chr21:44833200-44844000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:44833400-44836000	Enhancers	Primary hematopoietic stem cells	blood
27	chr21:44833400-44836200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr21:44833400-44836600	Weak transcription	NHLF	lung
29	chr21:44833400-44837600	Strong transcription	Gastric	stomach
30	chr21:44833600-44835600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr21:44833600-44835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr21:44833600-44835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr21:44833600-44836000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr21:44833600-44836000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:44833600-44836200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr21:44833600-44836400	Genic enhancers	Fetal Intestine Small	intestine
37	chr21:44833600-44837200	Weak transcription	Colon Smooth Muscle	Colon
38	chr21:44833600-44838800	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr21:44833600-44838800	Strong transcription	HSMM	muscle
40	chr21:44833600-44839000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr21:44833600-44839400	Strong transcription	HMEC	breast
42	chr21:44833600-44842200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr21:44833600-44842800	Transcr. at gene 5' and 3'	A549	lung
44	chr21:44833800-44835600	Genic enhancers	Hela-S3	cervix
45	chr21:44833800-44835800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr21:44833800-44836000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:44833800-44836200	Genic enhancers	Fetal Intestine Large	intestine
48	chr21:44833800-44839000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr21:44834000-44835600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr21:44834000-44835800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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