Variant report

Variant	rs7699557
Chromosome Location	chr4:47442361-47442362
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	chr4:47437562..47440498-chr4:47441242..47443779,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10004682	0.96[ASN][1000 genomes]
rs10022793	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029474	0.96[ASN][1000 genomes]
rs10030377	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10938484	0.96[ASN][1000 genomes]
rs11724538	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729717	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944531	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102764	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13138813	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28457819	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28625886	0.96[ASN][1000 genomes]
rs28631883	0.96[ASN][1000 genomes]
rs4356892	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388055	0.96[ASN][1000 genomes]
rs4446282	0.96[ASN][1000 genomes]
rs4450898	0.96[ASN][1000 genomes]
rs4591574	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4635794	0.96[ASN][1000 genomes]
rs4695232	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57163868	0.96[ASN][1000 genomes]
rs61003073	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6822230	0.93[ASN][1000 genomes]
rs6836637	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7664913	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7671396	0.83[ASN][1000 genomes]
rs7693987	0.96[ASN][1000 genomes]
rs9942270	0.96[ASN][1000 genomes]
rs9998407	0.96[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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7699557	ATP10D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436200-47444800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:47436800-47465000	Weak transcription	Gastric	stomach
3	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
4	chr4:47441000-47442400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:47441000-47456000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:47441400-47444600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:47441800-47442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart

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