Variant report

Variant	rs442400
Chromosome Location	chr21:47368993-47368994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47368443..47370722-chr21:47372647..47374224,2	K562	blood:
2	chr21:47363276..47365180-chr21:47366910..47369009,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11089022	0.83[CEU][hapmap]
rs11089030	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11700515	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11700554	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11700659	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11700719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11700929	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11702443	0.83[CEU][hapmap]
rs11702467	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11702478	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs11702503	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11702616	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11702691	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12627257	0.87[CEU][hapmap]
rs1547240	0.94[JPT][hapmap]
rs1736419	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1736420	0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1736422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1736423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1736425	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1783075	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1883046	0.86[EUR][1000 genomes]
rs1883047	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2070437	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2075908	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2150459	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2776403	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2839027	0.83[CEU][hapmap]
rs2839042	0.96[CEU][hapmap];0.94[JPT][hapmap]
rs2839043	0.96[CEU][hapmap]
rs2839044	0.94[JPT][hapmap]
rs2839045	0.95[CEU][hapmap];0.94[JPT][hapmap]
rs2839046	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs2839048	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs2839051	0.88[CEU][hapmap]
rs2839052	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs373617	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3788219	0.83[CEU][hapmap]
rs379939	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs381083	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs386633	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs395418	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs409280	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs411868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs413886	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs417745	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs417972	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs418241	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs418431	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs419348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs420270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs426594	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs431609	0.91[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs435299	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs437264	0.85[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs444774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs446763	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs452332	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs452877	0.84[AMR][1000 genomes]
rs4819162	0.90[JPT][hapmap]
rs4819164	0.95[JPT][hapmap]
rs4819168	0.94[JPT][hapmap]
rs7277877	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7278816	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7279643	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7281469	0.91[CEU][hapmap];0.94[JPT][hapmap]
rs7281573	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7282661	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7283763	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs8132054	0.94[JPT][hapmap]
rs8133743	0.95[JPT][hapmap]
rs8134872	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

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	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
3	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
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
11	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
12	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	n/a
13	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	99 gene(s)	inside rSNPs	n/a
14	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	n/a
15	nsv914085	chr21:47342116-47433055	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
16	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	nsv914086	chr21:47352625-47445184	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
20	nsv914088	chr21:47358915-47419012	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47361000-47370600	Weak transcription	Thymus	Thymus
2	chr21:47361200-47370000	Weak transcription	Spleen	Spleen
3	chr21:47367400-47373000	Weak transcription	Right Atrium	heart
4	chr21:47368400-47369000	Enhancers	Left Ventricle	heart
5	chr21:47368400-47369000	Enhancers	Right Ventricle	heart
6	chr21:47368600-47369000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:47368600-47369400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47368600-47369800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:47368600-47371000	Bivalent Enhancer	Placenta	Placenta
10	chr21:47368800-47369000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:47368800-47369000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:47368800-47369000	Enhancers	Lung	lung
13	chr21:47368800-47369000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr21:47368800-47369000	Enhancers	Stomach Mucosa	stomach
15	chr21:47368800-47369200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:47368800-47369200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr21:47368800-47369200	Flanking Bivalent TSS/Enh	K562	blood
18	chr21:47368800-47370600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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