Variant report

Variant	rs2468175
Chromosome Location	chr8:120187709-120187710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
2	chr8:120187373..120189536-chr8:120204658..120206608,2	MCF-7	breast:
3	chr8:120182916..120184889-chr8:120187238..120189541,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11777125	0.86[EUR][1000 genomes]
rs11992453	0.85[EUR][1000 genomes]
rs11994775	0.81[CEU][hapmap]
rs13265548	0.82[CHB][hapmap]
rs1364708	0.92[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1364709	0.83[CHB][hapmap]
rs1385491	0.80[CEU][hapmap]
rs1385498	0.84[JPT][hapmap]
rs1425055	0.83[CHB][hapmap]
rs1485290	0.88[CEU][hapmap]
rs1485291	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1485292	0.88[CEU][hapmap]
rs1485293	0.88[CEU][hapmap]
rs1485299	0.81[CEU][hapmap]
rs1549415	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17182246	0.87[CHB][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1872424	0.84[JPT][hapmap]
rs1905774	0.88[CEU][hapmap]
rs1905775	0.81[CEU][hapmap]
rs2450060	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2450063	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs2450064	0.82[CEU][hapmap]
rs2450065	0.88[CEU][hapmap]
rs2450067	0.88[CEU][hapmap]
rs2450068	0.88[CEU][hapmap]
rs2450069	0.88[CEU][hapmap]
rs2450073	0.84[CEU][hapmap]
rs2450077	0.83[CEU][hapmap]
rs2450079	0.88[CEU][hapmap];0.83[MEX][hapmap]
rs2465370	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465372	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465373	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465377	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2465379	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2465386	0.83[EUR][1000 genomes]
rs2465388	0.83[EUR][1000 genomes]
rs2465389	0.82[EUR][1000 genomes]
rs2465403	0.88[CEU][hapmap]
rs2465404	0.84[CEU][hapmap]
rs2468167	0.88[EUR][1000 genomes]
rs2468169	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2468171	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2468172	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2468173	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2468177	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2468181	0.83[CHB][hapmap]
rs2468182	0.83[CHB][hapmap]
rs4279627	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6469813	0.83[EUR][1000 genomes]
rs6469816	0.87[EUR][1000 genomes]
rs6991747	0.82[EUR][1000 genomes]
rs7386676	0.88[CEU][hapmap];0.87[MEX][hapmap];0.87[EUR][1000 genomes]
rs7832277	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs9650076	0.82[EUR][1000 genomes]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv6363	chr8:120150231-120188957	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2468175	MAL2	cis	cerebellum	SCAN
rs2468175	TAF2	cis	cerebellum	SCAN
rs2468175	NOV	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120183400-120188800	Weak transcription	Duodenum Mucosa	Duodenum

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