Variant report

Variant	rs1269651
Chromosome Location	chr7:107898586-107898587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107897446..107900433-chr7:107904725..107906956,2	K562	blood:
2	chr7:107897446..107899734-chr7:107904725..107907661,2	K562	blood:
3	chr7:107832223..107834725-chr7:107897549..107900223,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1155	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1269621	0.85[CEU][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs1269628	0.83[MEX][hapmap];0.81[MKK][hapmap]
rs1269629	0.82[ASW][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]
rs1269634	0.91[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes]
rs1269639	0.84[AMR][1000 genomes]
rs1269640	0.85[AMR][1000 genomes]
rs1269641	0.84[AMR][1000 genomes]
rs1269642	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1269643	0.81[MKK][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes]
rs1269645	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1269649	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1269650	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1269652	0.96[ASN][1000 genomes]
rs1269653	0.96[ASN][1000 genomes]
rs1269655	0.88[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1269656	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269658	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1269659	1.00[ASW][hapmap];0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2284284	0.90[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap]
rs370133	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs422011	0.87[MEX][hapmap]
rs888189	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1269651	ATXN7L1	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:107888000-107906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:107892600-107906600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:107893200-107907400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:107894000-107904000	Weak transcription	Pancreas	Pancrea
6	chr7:107894600-107904200	Weak transcription	K562	blood
7	chr7:107895600-107899800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:107897000-107899200	Enhancers	A549	lung
9	chr7:107898400-107898600	Enhancers	Brain Hippocampus Middle	brain
10	chr7:107898400-107898800	Enhancers	HMEC	breast

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