Variant report

Variant	rs4734806
Chromosome Location	chr8:105700680-105700681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:105700453..105701349-chr8:105771622..105772578,6	MCF-7	breast:
2	chr8:105700477..105701213-chr8:105788537..105789420,2	MCF-7	breast:
3	chr8:105698626..105703795-chr8:105706675..105713568,6	K562	blood:
4	chr8:105700460..105701094-chr8:105771649..105772542,2	K562	blood:
5	chr8:105524477..105525206-chr8:105700421..105701418,2	MCF-7	breast:
6	chr8:105700606..105702982-chr8:105716368..105719879,3	K562	blood:
7	chr8:105700469..105701532-chr8:105771552..105773048,14	MCF-7	breast:
8	chr8:105700257..105701952-chr8:105788710..105789989,7	MCF-7	breast:

No data

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11775279	1.00[ASN][1000 genomes]
rs11780991	0.91[EUR][1000 genomes]
rs13250799	0.89[CEU][hapmap];0.96[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251577	0.89[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13253231	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263407	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263691	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263724	0.94[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281201	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370798	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438341	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263776	0.94[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341866	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34027648	0.81[EUR][1000 genomes]
rs34080218	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989786	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35641998	1.00[ASN][1000 genomes]
rs35699791	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35931188	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069650	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36072167	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545061	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613969	0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs4734110	1.00[ASN][1000 genomes]
rs4734805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734814	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734816	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857375	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674139	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465486	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Periodontitis (DPAL)	24024966	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4734806	LRP12	cis	cerebellum	SCAN
rs4734806	TTC35	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105699200-105701400	Weak transcription	GM12878-XiMat	blood
2	chr8:105699200-105703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:105699400-105703600	Weak transcription	HMEC	breast
4	chr8:105700200-105700800	Enhancers	K562	blood

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