Variant report

Variant	rs4699693
Chromosome Location	chr4:99867860-99867861
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99853484..99855630-chr4:99865646..99867921,2	K562	blood:
2	chr4:99866310..99868814-chr4:99873787..99876130,2	MCF-7	breast:
3	chr4:99866739..99868357-chr4:99870611..99872166,2	K562	blood:
4	chr4:99849207..99850858-chr4:99867118..99869087,2	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10004975	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10023577	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1037475	0.85[CEU][hapmap]
rs10433890	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11097640	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097643	0.85[CEU][hapmap]
rs11097645	0.84[CEU][hapmap]
rs11723037	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap]
rs11725932	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs11729285	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11731878	0.85[CEU][hapmap]
rs12374261	0.85[CEU][hapmap]
rs12498533	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12644580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1453871	0.85[CEU][hapmap]
rs17028293	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs17216446	0.85[CEU][hapmap]
rs1869459	0.85[CEU][hapmap]
rs2100426	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28494580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28577966	0.82[EUR][1000 genomes]
rs2924581	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34830689	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35447189	0.88[EUR][1000 genomes]
rs4264834	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699688	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6810489	0.96[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs6811070	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6830125	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6846221	0.81[CEU][hapmap];0.94[JPT][hapmap]
rs6846475	0.85[CEU][hapmap]
rs6852715	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7660937	0.83[EUR][1000 genomes]
rs7661487	0.86[EUR][1000 genomes]
rs7664964	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7665587	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7665590	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7674319	0.85[CEU][hapmap]
rs7674742	0.81[CEU][hapmap];0.94[JPT][hapmap]
rs7690818	0.85[CEU][hapmap]
rs7696573	0.85[CEU][hapmap]
rs7696584	0.85[CEU][hapmap]
rs9332467	0.88[CEU][hapmap]
rs9996959	0.84[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699693	ADH5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99866200-99870000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99867200-99868000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:99867600-99872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:99867800-99872000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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