Variant report

Variant	rs9982148
Chromosome Location	chr21:45275264-45275265
allele	A/G
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	chr21:45229515..45232052-chr21:45272967..45276127,3	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11910604	1.00[TSI][hapmap]
rs2838463	1.00[TSI][hapmap]
rs28889734	0.83[AFR][1000 genomes]
rs59391120	0.87[AFR][1000 genomes]
rs8127335	1.00[TSI][hapmap]
rs8129421	1.00[TSI][hapmap]
rs8132862	1.00[TSI][hapmap]
rs878132	1.00[TSI][hapmap]
rs9984533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45267600-45280400	Weak transcription	Gastric	stomach
2	chr21:45274200-45276000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:45274200-45276000	Enhancers	Placenta	Placenta
4	chr21:45274200-45276200	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:45274200-45276200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:45274400-45276200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:45274400-45276200	Enhancers	Fetal Thymus	thymus
8	chr21:45274600-45276200	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:45274800-45276200	Enhancers	Primary B cells from cord blood	blood
10	chr21:45275000-45275400	Weak transcription	Spleen	Spleen
11	chr21:45275000-45275600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr21:45275000-45275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:45275000-45284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:45275200-45275400	Enhancers	Stomach Mucosa	stomach
15	chr21:45275200-45275400	Active TSS	K562	blood
16	chr21:45275200-45275400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr21:45275200-45276000	Bivalent Enhancer	HepG2	liver
18	chr21:45275200-45276200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:45275200-45276200	Enhancers	GM12878-XiMat	blood
20	chr21:45275200-45276800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr21:45275200-45279200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:45275200-45279200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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