Variant report

Variant	rs12998294
Chromosome Location	chr2:187555579-187555580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187553087..187557592-chr2:187558949..187563450,5	K562	blood:
2	chr2:187551282..187557363-chr2:187557813..187561684,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144369	Chromatin interaction
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11678190	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683898	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11685758	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151442	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615659	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13001028	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006483	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13016261	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027560	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028817	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030356	0.87[ASN][1000 genomes]
rs1448424	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17334303	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17334422	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17406339	0.93[ASN][1000 genomes]
rs1839121	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1839123	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839124	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084448	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34483988	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34521209	0.92[ASN][1000 genomes]
rs34980163	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35055112	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35251833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36117902	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3816386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136540	0.84[ASN][1000 genomes]
rs58644770	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6717512	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6748509	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753438	0.86[EUR][1000 genomes]
rs7419327	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7575516	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7589470	0.90[ASN][1000 genomes]
rs7593018	0.80[AMR][1000 genomes]
rs9333289	0.92[EUR][1000 genomes]
rs9333290	0.96[EUR][1000 genomes]
rs9789682	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs998972	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
3	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
4	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
6	chr2:187546800-187558000	Weak transcription	A549	lung
7	chr2:187554400-187558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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