Variant report

Variant	rs12497021
Chromosome Location	chr3:88011989-88011990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:88011920..88014768-chr5:138939490..138942300,2	K562	blood:

Variant related genes	Relation type
ENSG00000131508	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1021338	0.81[EUR][1000 genomes]
rs10511135	0.86[EUR][1000 genomes]
rs11916422	0.86[EUR][1000 genomes]
rs11917302	0.86[EUR][1000 genomes]
rs12485247	0.86[EUR][1000 genomes]
rs12486342	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486894	0.82[EUR][1000 genomes]
rs12489455	0.81[EUR][1000 genomes]
rs12491283	0.81[EUR][1000 genomes]
rs12491978	0.81[EUR][1000 genomes]
rs12492131	0.81[EUR][1000 genomes]
rs12495772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497315	0.81[EUR][1000 genomes]
rs12497340	0.81[EUR][1000 genomes]
rs12497845	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12629921	0.81[EUR][1000 genomes]
rs17025082	0.81[EUR][1000 genomes]
rs17025172	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17025178	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17025185	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844434	0.82[EUR][1000 genomes]
rs1847304	0.86[EUR][1000 genomes]
rs1847313	0.81[EUR][1000 genomes]
rs1875716	0.81[EUR][1000 genomes]
rs1910399	0.81[EUR][1000 genomes]
rs1910401	0.81[EUR][1000 genomes]
rs2068948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099228	0.82[EUR][1000 genomes]
rs2171819	0.81[EUR][1000 genomes]
rs2343771	0.81[EUR][1000 genomes]
rs2343774	0.85[EUR][1000 genomes]
rs2932275	0.82[EUR][1000 genomes]
rs2932302	0.82[EUR][1000 genomes]
rs55776072	0.81[EUR][1000 genomes]
rs55879630	0.86[EUR][1000 genomes]
rs57226509	0.85[EUR][1000 genomes]
rs57688062	0.81[EUR][1000 genomes]
rs58046740	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58460783	0.81[EUR][1000 genomes]
rs58496925	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58521812	0.85[EUR][1000 genomes]
rs58824845	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59504854	0.81[EUR][1000 genomes]
rs59703125	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60057665	0.81[EUR][1000 genomes]
rs72911684	0.81[EUR][1000 genomes]
rs72913703	0.81[EUR][1000 genomes]
rs72913715	0.85[EUR][1000 genomes]
rs72913722	0.85[EUR][1000 genomes]
rs73847706	0.86[EUR][1000 genomes]
rs73847712	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73847723	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73847733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7638490	0.81[EUR][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	nsv834758	chr3:87867363-88014975	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88008200-88012600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:88009600-88012200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:88011600-88012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:88011800-88013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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