Variant report

Variant	rs9650133
Chromosome Location	chr8:95832448-95832449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr8:95832309-95832511	K562	blood:	n/a	n/a

Variant related genes	Relation type
INTS8	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10096090	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10098563	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10100651	0.85[ASN][1000 genomes]
rs10112232	0.95[ASN][1000 genomes]
rs10441538	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1129152	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11996455	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155666	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545815	0.93[ASN][1000 genomes]
rs12548874	0.83[EUR][1000 genomes]
rs12679044	0.84[EUR][1000 genomes]
rs13271375	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13271644	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779789	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073755	0.93[ASN][1000 genomes]
rs4075835	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4500055	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734285	0.84[ASN][1000 genomes]
rs6991067	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002058	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7004862	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs713113	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7817862	0.91[ASN][1000 genomes]
rs9643349	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9650133	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95827600-95834000	Weak transcription	HepG2	liver
2	chr8:95829200-95834800	Weak transcription	Right Atrium	heart
3	chr8:95831800-95834000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:95831800-95834400	Weak transcription	A549	lung
5	chr8:95831800-95834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95832000-95832600	Enhancers	K562	blood
7	chr8:95832000-95834600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:95832200-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:95832400-95832600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95832400-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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