Variant report

Variant	rs7823310
Chromosome Location	chr8:51293538-51293539
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	CEBPB	chr8:51293479-51293710	HepG2	liver:	n/a	n/a
2	PRDM1	chr8:51293393-51293653	Hela-S3	cervix:	n/a	chr8:51293480-51293493 chr8:51293480-51293489 chr8:51293479-51293493 chr8:51293478-51293493
3	CEBPB	chr8:51293521-51293731	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000253849	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10090266	0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs10101856	0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs10103929	0.89[JPT][hapmap]
rs10107397	0.88[JPT][hapmap]
rs10282933	0.88[JPT][hapmap]
rs10504101	1.00[JPT][hapmap]
rs10957899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11773993	0.81[CHB][hapmap]
rs11993995	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11998724	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12216754	0.89[JPT][hapmap]
rs12541766	0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12548514	0.87[AFR][1000 genomes]
rs1450123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1481469	0.89[JPT][hapmap];1.00[YRI][hapmap]
rs1481476	0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1481477	0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16914623	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16914661	0.89[JPT][hapmap]
rs16914702	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16914726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16914760	0.90[CHB][hapmap]
rs16914778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2169183	1.00[JPT][hapmap]
rs28513173	0.95[ASN][1000 genomes]
rs28869785	0.95[ASN][1000 genomes]
rs2923058	0.81[CHB][hapmap]
rs3919897	0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs4242461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4349993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4367560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4367564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4376507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4416833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4449807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4523268	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4524809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4535749	0.84[ASN][1000 genomes]
rs4538902	0.89[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes]
rs4570174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4607635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4873441	0.89[JPT][hapmap]
rs4873445	1.00[JPT][hapmap]
rs4873450	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4873455	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56370038	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6473124	0.89[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes]
rs6984454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73678750	0.95[ASN][1000 genomes]
rs7835915	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7845427	0.88[ASN][1000 genomes]
rs921330	0.89[JPT][hapmap]
rs9298318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9643435	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3431002	chr8:51293424-51295422	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51292600-51293800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51292800-51294000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51293200-51293800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:51293200-51293800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:51293400-51293600	Enhancers	Fetal Intestine Small	intestine

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