Variant report

Variant	rs4819332
Chromosome Location	chr21:45274239-45274240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45274087..45276071-chr21:45284216..45286034,2	MCF-7	breast:
2	chr21:45252796..45255240-chr21:45273373..45275874,2	K562	blood:
3	chr21:45272908..45275476-chr21:45277355..45279131,2	MCF-7	breast:
4	chr21:45265753..45268307-chr21:45273441..45275141,2	K562	blood:
5	chr21:45229515..45232052-chr21:45272967..45276127,3	K562	blood:

Variant related genes	Relation type
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11909011	0.82[ASN][1000 genomes]
rs12397630	0.99[ASN][1000 genomes]
rs2838422	0.81[ASN][1000 genomes]
rs4819326	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4819330	1.00[ASN][1000 genomes]
rs4819331	1.00[ASN][1000 genomes]
rs4819333	0.99[ASN][1000 genomes]
rs4819337	0.83[ASN][1000 genomes]
rs55939443	0.86[ASN][1000 genomes]
rs56240646	1.00[ASN][1000 genomes]
rs56928276	0.94[ASN][1000 genomes]
rs58660555	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs58859690	1.00[ASN][1000 genomes]
rs66912549	1.00[ASN][1000 genomes]
rs67618547	1.00[ASN][1000 genomes]
rs7277520	1.00[ASN][1000 genomes]
rs7279644	0.97[ASN][1000 genomes]
rs7279993	0.95[ASN][1000 genomes]
rs73224999	0.94[ASN][1000 genomes]
rs762413	0.85[ASN][1000 genomes]
rs762416	0.97[ASN][1000 genomes]
rs8132053	0.95[ASN][1000 genomes]
rs9306162	0.99[ASN][1000 genomes]
rs9974080	1.00[ASN][1000 genomes]
rs9974122	0.99[ASN][1000 genomes]
rs9974624	1.00[ASN][1000 genomes]
rs9976132	0.94[ASN][1000 genomes]
rs9978185	0.99[ASN][1000 genomes]
rs9978333	1.00[ASN][1000 genomes]
rs9978624	1.00[ASN][1000 genomes]
rs9978721	0.93[ASN][1000 genomes]
rs9982899	0.99[ASN][1000 genomes]
rs9982908	0.99[ASN][1000 genomes]
rs9983217	1.00[ASN][1000 genomes]
rs9983861	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45267600-45280400	Weak transcription	Gastric	stomach
2	chr21:45270000-45274800	Weak transcription	Spleen	Spleen
3	chr21:45273400-45275000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45273600-45274800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:45273800-45274400	ZNF genes & repeats	K562	blood
6	chr21:45274000-45274400	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr21:45274200-45274400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr21:45274200-45274800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:45274200-45274800	Enhancers	GM12878-XiMat	blood
10	chr21:45274200-45275200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45274200-45275200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr21:45274200-45276000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45274200-45276000	Enhancers	Placenta	Placenta
14	chr21:45274200-45276200	Enhancers	Primary hematopoietic stem cells	blood
15	chr21:45274200-45276200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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