Variant report

Variant	rs566798
Chromosome Location	chr11:34852277-34852278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34823587..34826482-chr11:34851054..34853222,2	K562	blood:
2	chr11:34842739..34845478-chr11:34850745..34855445,5	K562	blood:
3	chr11:34842739..34845478-chr11:34850745..34852708,3	K562	blood:
4	chr11:34852068..34854605-chr11:34854752..34856970,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10501136	0.91[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs10836315	0.81[EUR][1000 genomes]
rs1097517	0.91[ASN][1000 genomes]
rs11605381	0.80[EUR][1000 genomes]
rs12272777	0.81[EUR][1000 genomes]
rs12278295	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs12291580	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs12293044	0.81[EUR][1000 genomes]
rs12803664	0.81[EUR][1000 genomes]
rs12808574	0.81[EUR][1000 genomes]
rs2915186	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956073	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34191151	0.81[EUR][1000 genomes]
rs35953213	0.80[EUR][1000 genomes]
rs473848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473885	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485845	0.91[ASN][1000 genomes]
rs498798	0.89[ASN][1000 genomes]
rs502857	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs508062	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs512013	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525202	0.86[EUR][1000 genomes]
rs537873	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs547504	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs548967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550313	0.91[ASN][1000 genomes]
rs552171	0.91[ASN][1000 genomes]
rs561477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568529	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881107	0.80[EUR][1000 genomes]
rs7946980	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs836950	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs566798	APIP	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34847200-34858400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:34848200-34854400	Weak transcription	Esophagus	oesophagus
3	chr11:34851400-34853200	Enhancers	K562	blood
4	chr11:34851600-34852400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:34851600-34852400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:34851600-34852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:34851600-34852600	Enhancers	Right Ventricle	heart
8	chr11:34851600-34852800	Enhancers	Fetal Heart	heart
9	chr11:34851800-34852400	Enhancers	Fetal Muscle Leg	muscle
10	chr11:34851800-34852400	Enhancers	Right Atrium	heart
11	chr11:34852000-34852400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:34852000-34853200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:34852000-34858200	Weak transcription	HepG2	liver
14	chr11:34852200-34852600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:34852200-34853000	Enhancers	Fetal Brain Female	brain
16	chr11:34852200-34853600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:34852200-34853600	Enhancers	Fetal Brain Male	brain

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