Variant report

Variant	rs2240965
Chromosome Location	chr7:103294305-103294306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103287552..103290222-chr7:103293075..103295780,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1012064	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1012065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953389	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12666897	0.90[ASW][hapmap]
rs12671936	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12672672	0.85[ASN][1000 genomes]
rs12705140	0.82[ASW][hapmap]
rs12705148	0.81[LWK][hapmap];0.84[YRI][hapmap]
rs13238300	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17154114	0.93[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1860686	1.00[LWK][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs2017179	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2299358	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34568163	0.84[ASN][1000 genomes]
rs362631	0.84[YRI][hapmap]
rs362645	0.84[ASN][1000 genomes]
rs3808021	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57439348	0.82[ASN][1000 genomes]
rs58317364	0.82[ASN][1000 genomes]
rs59244914	0.84[ASN][1000 genomes]
rs67423770	0.93[AFR][1000 genomes]
rs67811550	0.91[AFR][1000 genomes]
rs67823578	0.92[AFR][1000 genomes]
rs720078	0.92[YRI][hapmap]
rs977639	0.90[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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240965	FLJ36031	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103278800-103300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:103288800-103301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103289000-103300800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:103289200-103294800	Strong transcription	HepG2	liver
5	chr7:103290000-103300600	Weak transcription	Liver	Liver
6	chr7:103291000-103296000	Weak transcription	K562	blood
7	chr7:103293800-103300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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