Variant report

Variant	rs71324446
Chromosome Location	chr21:47231428-47231429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47224097..47226924-chr21:47229345..47232171,3	K562	blood:
2	chr21:46962604..46965511-chr21:47229673..47232533,2	MCF-7	breast:
3	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:

Variant related genes	Relation type
ENSG00000173638	Chromatin interaction

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

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

rs_ID	r²[population]
rs1059010	1.00[ASN][1000 genomes]
rs10854474	1.00[ASN][1000 genomes]
rs10854475	1.00[ASN][1000 genomes]
rs11089025	1.00[ASN][1000 genomes]
rs11701130	1.00[ASN][1000 genomes]
rs11701693	1.00[ASN][1000 genomes]
rs1625244	1.00[ASN][1000 genomes]
rs1736424	1.00[ASN][1000 genomes]
rs1783076	1.00[ASN][1000 genomes]
rs2014421	1.00[ASN][1000 genomes]
rs2026286	1.00[ASN][1000 genomes]
rs2150453	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2150454	0.89[AFR][1000 genomes];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]
rs34990419	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[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	1.00[ASN][1000 genomes]
rs382303	1.00[ASN][1000 genomes]
rs402355	1.00[ASN][1000 genomes]
rs403192	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	1.00[ASN][1000 genomes]
rs439145	1.00[ASN][1000 genomes]
rs442953	1.00[ASN][1000 genomes]
rs451920	1.00[ASN][1000 genomes]
rs452797	1.00[ASN][1000 genomes]
rs454268	1.00[ASN][1000 genomes]
rs4818804	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4819143	1.00[ASN][1000 genomes]
rs4819159	1.00[ASN][1000 genomes]
rs56695931	1.00[ASN][1000 genomes]
rs6518257	1.00[ASN][1000 genomes]
rs6518258	1.00[ASN][1000 genomes]
rs6518259	1.00[ASN][1000 genomes]
rs71324444	0.87[EUR][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]
rs7410101	1.00[ASN][1000 genomes]
rs7410105	1.00[ASN][1000 genomes]
rs753092	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8133932	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];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[ASN][1000 genomes]
rs9976042	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
3	chr21:47221000-47236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47221200-47239800	Weak transcription	Spleen	Spleen
5	chr21:47224000-47239000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47226800-47236800	Weak transcription	Fetal Thymus	thymus
7	chr21:47231000-47231800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr21:47231400-47236800	Weak transcription	Thymus	Thymus

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