Variant report

Variant	rs2821082
Chromosome Location	chr1:47639084-47639085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47639046..47642799-chr1:47643265..47647842,8	K562	blood:
2	chr1:47639023..47641866-chr1:47695486..47697067,2	K562	blood:
3	chr1:47638022..47640656-chr1:47643526..47645974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225506	Chromatin interaction
ENSG00000162367	Chromatin interaction
ENSG00000224805	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10789500	0.88[EUR][1000 genomes]
rs10789501	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789503	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10890460	0.80[EUR][1000 genomes]
rs10890464	0.80[EUR][1000 genomes]
rs10890465	0.80[EUR][1000 genomes]
rs10890466	0.82[EUR][1000 genomes]
rs10890467	0.82[EUR][1000 genomes]
rs10890468	0.88[EUR][1000 genomes]
rs10890470	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11211450	0.80[EUR][1000 genomes]
rs11211463	0.85[EUR][1000 genomes]
rs11211464	0.85[EUR][1000 genomes]
rs11211471	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11211472	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11211475	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12042073	0.82[EUR][1000 genomes]
rs12046348	0.82[EUR][1000 genomes]
rs12046525	0.87[EUR][1000 genomes]
rs12124648	0.82[EUR][1000 genomes]
rs12734327	0.80[EUR][1000 genomes]
rs1847222	0.80[EUR][1000 genomes]
rs1847223	0.80[EUR][1000 genomes]
rs1847224	0.80[EUR][1000 genomes]
rs1967756	0.81[EUR][1000 genomes]
rs1967757	0.80[EUR][1000 genomes]
rs2208772	0.83[EUR][1000 genomes]
rs2224622	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2742079	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2798352	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2798356	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28462300	0.80[EUR][1000 genomes]
rs28796303	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3850876	0.82[EUR][1000 genomes]
rs4926826	0.80[EUR][1000 genomes]
rs4926869	0.80[EUR][1000 genomes]
rs4926918	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6664392	0.80[EUR][1000 genomes]
rs6664496	0.80[EUR][1000 genomes]
rs7522639	0.80[EUR][1000 genomes]
rs7526674	0.80[EUR][1000 genomes]
rs760440	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs760441	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs760442	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs911903	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs911909	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9633421	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47596400-47641000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:47638800-47644800	Weak transcription	Ovary	ovary

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