Variant report

Variant	rs9306162
Chromosome Location	chr21:45278167-45278168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45277545..45281812-chr21:45337639..45343236,6	K562	blood:
2	chr21:45274532..45276467-chr21:45276902..45278896,2	MCF-7	breast:
3	chr21:45273597..45276751-chr21:45277053..45279889,4	K562	blood:
4	chr21:45272908..45275476-chr21:45277355..45279131,2	MCF-7	breast:
5	chr21:45277545..45279138-chr21:45340639..45343236,2	K562	blood:

Variant related genes	Relation type
ENSG00000226543	Chromatin interaction
ENSG00000199598	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	0.81[ASN][1000 genomes]
rs12397630	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41506347	0.85[EUR][1000 genomes]
rs4819326	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819330	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819331	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4819332	0.99[ASN][1000 genomes]
rs4819333	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4819337	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55939443	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56240646	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56928276	0.93[ASN][1000 genomes]
rs58660555	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58859690	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66912549	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67618547	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7277520	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279644	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7279993	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73224999	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs762413	0.84[ASN][1000 genomes]
rs762416	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132053	0.94[ASN][1000 genomes]
rs9974080	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9974122	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974624	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9976132	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9978185	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9978333	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9978624	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9978721	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9982899	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982908	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983217	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9983861	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45267600-45280400	Weak transcription	Gastric	stomach
2	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:45275200-45279200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45275200-45279200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:45276000-45280000	Weak transcription	Placenta	Placenta
6	chr21:45276000-45280600	Weak transcription	Lung	lung
7	chr21:45276000-45280600	Weak transcription	Spleen	Spleen
8	chr21:45276200-45278800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:45276200-45279400	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:45276200-45280600	Weak transcription	Fetal Thymus	thymus
11	chr21:45276200-45281200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr21:45276200-45281200	Weak transcription	GM12878-XiMat	blood
13	chr21:45276200-45281400	Weak transcription	Primary B cells from cord blood	blood
14	chr21:45276800-45278400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr21:45276800-45278800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr21:45277200-45278400	Enhancers	HepG2	liver
17	chr21:45277200-45278600	Enhancers	Hela-S3	cervix
18	chr21:45277600-45279600	Enhancers	K562	blood
19	chr21:45278000-45278600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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