Variant report

Variant	rs2776403
Chromosome Location	chr21:47373476-47373477
allele	C/T
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:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11089030	0.82[EUR][1000 genomes]
rs11700515	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700554	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700659	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700719	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11700929	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11702467	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11702503	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11702607	0.81[ASN][1000 genomes]
rs11702616	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11702691	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547240	0.85[CHB][hapmap]
rs1736419	0.85[EUR][1000 genomes]
rs1736420	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1736422	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1736423	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1736425	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783075	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1883047	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070437	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2075908	0.95[CHB][hapmap]
rs2150459	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2839042	0.90[CHB][hapmap]
rs2839043	0.90[CHB][hapmap]
rs2839044	0.85[CHB][hapmap]
rs2839045	0.89[CHB][hapmap]
rs2839046	0.86[CHB][hapmap]
rs2839048	0.86[CHB][hapmap]
rs2839051	0.83[CHB][hapmap]
rs2839052	0.86[CHB][hapmap]
rs2839060	0.95[CHB][hapmap]
rs35314082	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs373617	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs379939	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3804036	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs381083	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs386633	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs395418	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs409280	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs411868	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs413886	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs417745	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs417972	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs418241	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs418431	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs419348	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs420270	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs426594	0.81[EUR][1000 genomes]
rs431609	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs435299	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs437264	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs442400	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs444774	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs446763	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs452332	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs452877	0.83[AMR][1000 genomes]
rs4819162	0.81[CHB][hapmap]
rs4819164	0.81[CHB][hapmap]
rs4819168	0.85[CHB][hapmap]
rs7277877	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7278816	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7279643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7281469	0.85[CHB][hapmap]
rs7281573	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7282661	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7283763	0.85[CHB][hapmap]
rs8128707	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8132054	0.85[CHB][hapmap]
rs8133743	0.81[CHB][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47370600-47375400	Enhancers	Fetal Muscle Leg	muscle
2	chr21:47370800-47379600	Weak transcription	Right Ventricle	heart
3	chr21:47371000-47373600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:47371000-47374400	Enhancers	Placenta	Placenta
5	chr21:47371200-47374200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:47371200-47377200	Weak transcription	Adipose Nuclei	Adipose
7	chr21:47371400-47374200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr21:47371600-47374000	Weak transcription	HSMM	muscle
9	chr21:47371600-47374200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:47371800-47374200	Weak transcription	Fetal Lung	lung
11	chr21:47372400-47374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:47372600-47373600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr21:47372600-47374600	Enhancers	Colon Smooth Muscle	Colon
14	chr21:47372600-47374800	Enhancers	Fetal Stomach	stomach
15	chr21:47372800-47374000	Enhancers	Aorta	Aorta
16	chr21:47372800-47374600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr21:47372800-47374600	Enhancers	Fetal Heart	heart
18	chr21:47372800-47374600	Enhancers	Ovary	ovary
19	chr21:47373000-47373600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr21:47373000-47374000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:47373000-47374200	Enhancers	Left Ventricle	heart
22	chr21:47373000-47374200	Enhancers	NHEK	skin
23	chr21:47373000-47374400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:47373000-47374400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:47373000-47374600	Enhancers	Rectal Smooth Muscle	rectum
26	chr21:47373000-47374600	Enhancers	Right Atrium	heart
27	chr21:47373000-47374800	Enhancers	Fetal Muscle Trunk	muscle
28	chr21:47373200-47374800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr21:47373200-47375200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47373200-47375400	Enhancers	NHDF-Ad	bronchial
31	chr21:47373400-47374400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
32	chr21:47373400-47374800	Enhancers	Fetal Kidney	kidney
33	chr21:47373400-47374800	Enhancers	HSMMtube	muscle

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