Variant report

Variant	rs9980681
Chromosome Location	chr21:40346294-40346295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39996865..39999462-chr21:40343596..40346422,2	MCF-7	breast:
2	chr21:40344289..40347062-chr21:40348923..40350988,2	K562	blood:

Variant related genes	Relation type
ENSG00000232837	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854393	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10854395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11088461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs12165276	1.00[ASN][1000 genomes]
rs2410071	1.00[CEU][hapmap]
rs2836793	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836794	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836809	1.00[CEU][hapmap]
rs2836810	1.00[CEU][hapmap]
rs60997307	0.98[ASN][1000 genomes]
rs7278217	0.88[ASN][1000 genomes]
rs7283257	0.88[ASN][1000 genomes]
rs732339	1.00[CEU][hapmap]
rs732340	1.00[CEU][hapmap]
rs8126897	0.86[ASN][1000 genomes]
rs8129750	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131869	0.98[ASN][1000 genomes]
rs8133475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs973193	1.00[CEU][hapmap]
rs9980120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9981682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9982800	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983903	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40338400-40351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40339000-40351200	Weak transcription	Fetal Intestine Small	intestine
4	chr21:40341600-40347000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40341600-40347000	Weak transcription	Dnd41	blood
6	chr21:40341600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40341800-40347200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:40344000-40348400	Weak transcription	Spleen	Spleen
9	chr21:40345200-40346600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:40345400-40348800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:40346000-40346600	Weak transcription	Fetal Thymus	thymus
12	chr21:40346200-40347400	Enhancers	Thymus	Thymus

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