Variant report

Variant	rs439145
Chromosome Location	chr21:47373995-47373996
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:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10854474	1.00[ASN][1000 genomes]
rs10854475	1.00[ASN][1000 genomes]
rs11089025	1.00[ASN][1000 genomes]
rs11701693	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1625244	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736424	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783076	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014421	1.00[ASN][1000 genomes]
rs2026286	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150453	1.00[ASN][1000 genomes]
rs2150454	1.00[ASN][1000 genomes]
rs2183599	1.00[ASN][1000 genomes]
rs2210290	1.00[ASN][1000 genomes]
rs2277812	1.00[ASN][1000 genomes]
rs2330327	1.00[ASN][1000 genomes]
rs2839020	1.00[ASN][1000 genomes]
rs2839021	1.00[ASN][1000 genomes]
rs2839030	1.00[ASN][1000 genomes]
rs2839033	1.00[ASN][1000 genomes]
rs2839035	1.00[ASN][1000 genomes]
rs2839039	1.00[ASN][1000 genomes]
rs2839041	1.00[ASN][1000 genomes]
rs2839050	1.00[ASN][1000 genomes]
rs2839054	1.00[ASN][1000 genomes]
rs34495634	1.00[ASN][1000 genomes]
rs34990419	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369245	1.00[ASN][1000 genomes]
rs371587	1.00[ASN][1000 genomes]
rs373267	1.00[ASN][1000 genomes]
rs374331	1.00[ASN][1000 genomes]
rs375254	1.00[ASN][1000 genomes]
rs375971	1.00[ASN][1000 genomes]
rs377213	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788217	1.00[ASN][1000 genomes]
rs3788218	1.00[ASN][1000 genomes]
rs3788226	1.00[ASN][1000 genomes]
rs3788228	1.00[ASN][1000 genomes]
rs380120	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs382303	1.00[ASN][1000 genomes]
rs402039	0.83[AMR][1000 genomes]
rs402355	1.00[ASN][1000 genomes]
rs403192	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs407651	1.00[ASN][1000 genomes]
rs410902	1.00[ASN][1000 genomes]
rs413246	1.00[ASN][1000 genomes]
rs413517	1.00[ASN][1000 genomes]
rs420386	1.00[ASN][1000 genomes]
rs425232	1.00[ASN][1000 genomes]
rs432338	1.00[ASN][1000 genomes]
rs4369958	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs442953	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451920	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452797	1.00[ASN][1000 genomes]
rs454268	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818804	1.00[ASN][1000 genomes]
rs4819159	1.00[ASN][1000 genomes]
rs56695931	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6518257	1.00[ASN][1000 genomes]
rs6518258	1.00[ASN][1000 genomes]
rs6518259	1.00[ASN][1000 genomes]
rs71324446	1.00[ASN][1000 genomes]
rs7276114	1.00[ASN][1000 genomes]
rs7277632	1.00[ASN][1000 genomes]
rs7279887	1.00[ASN][1000 genomes]
rs7280054	1.00[ASN][1000 genomes]
rs7280405	1.00[ASN][1000 genomes]
rs7283688	1.00[ASN][1000 genomes]
rs73159604	1.00[ASN][1000 genomes]
rs7410101	1.00[ASN][1000 genomes]
rs7410105	1.00[ASN][1000 genomes]
rs753092	1.00[ASN][1000 genomes]
rs8131193	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8133932	1.00[ASN][1000 genomes]
rs9637207	1.00[ASN][1000 genomes]
rs9653780	1.00[ASN][1000 genomes]
rs9653791	1.00[ASN][1000 genomes]
rs989650	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976042	1.00[ASN][1000 genomes]

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:35 , 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	chr21:47371000-47374400	Enhancers	Placenta	Placenta
4	chr21:47371200-47374200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:47371200-47377200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:47371400-47374200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:47371600-47374000	Weak transcription	HSMM	muscle
8	chr21:47371600-47374200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:47371800-47374200	Weak transcription	Fetal Lung	lung
10	chr21:47372400-47374000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:47372600-47374600	Enhancers	Colon Smooth Muscle	Colon
12	chr21:47372600-47374800	Enhancers	Fetal Stomach	stomach
13	chr21:47372800-47374000	Enhancers	Aorta	Aorta
14	chr21:47372800-47374600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:47372800-47374600	Enhancers	Fetal Heart	heart
16	chr21:47372800-47374600	Enhancers	Ovary	ovary
17	chr21:47373000-47374000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:47373000-47374200	Enhancers	Left Ventricle	heart
19	chr21:47373000-47374200	Enhancers	NHEK	skin
20	chr21:47373000-47374400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:47373000-47374400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:47373000-47374600	Enhancers	Rectal Smooth Muscle	rectum
23	chr21:47373000-47374600	Enhancers	Right Atrium	heart
24	chr21:47373000-47374800	Enhancers	Fetal Muscle Trunk	muscle
25	chr21:47373200-47374800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:47373200-47375200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:47373200-47375400	Enhancers	NHDF-Ad	bronchial
28	chr21:47373400-47374400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr21:47373400-47374800	Enhancers	Fetal Kidney	kidney
30	chr21:47373400-47374800	Enhancers	HSMMtube	muscle
31	chr21:47373600-47374000	Enhancers	Stomach Smooth Muscle	stomach
32	chr21:47373600-47374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:47373600-47374800	Enhancers	NHLF	lung
34	chr21:47373800-47374200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:47373800-47374400	Enhancers	Duodenum Smooth Muscle	Duodenum

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