Variant report

Variant	rs1122271
Chromosome Location	chr14:70523673-70523674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129447	0.98[ASN][1000 genomes]
rs10142899	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10873226	0.81[CHD][hapmap]
rs11629291	1.00[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.99[ASN][1000 genomes]
rs12435978	0.89[CHD][hapmap]
rs12589441	0.82[CHD][hapmap]
rs12883784	0.82[CHD][hapmap]
rs12883884	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[ASN][1000 genomes]
rs12884186	0.82[CHD][hapmap]
rs149250	0.82[CHD][hapmap]
rs150946	0.82[CHD][hapmap]
rs2125744	0.86[ASN][1000 genomes]
rs2169074	0.81[CHD][hapmap]
rs227434	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs2839867	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3809401	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4899323	0.84[CHD][hapmap]
rs4902771	0.84[CHD][hapmap]
rs7141091	0.91[CHD][hapmap]
rs7142759	1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.98[ASN][1000 genomes]
rs8010945	0.82[CEU][hapmap]
rs8014694	0.89[CHD][hapmap]
rs8020841	0.82[CEU][hapmap]
rs998919	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.99[ASN][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1122271	RGS6	cis	cerebellum	SCAN
rs1122271	ADAM21	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:70517000-70525200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:70517800-70526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:70518000-70526200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:70518200-70524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:70519000-70525400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:70521400-70525600	Weak transcription	H9 Cell Line	embryonic stem cell

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