Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:34828027..34830310-chr11:34842836..34844990,2	K562	blood:
2	chr11:34827577..34829280-chr11:34846794..34848443,2	K562	blood:
3	chr11:34828929..34832909-chr11:34833620..34837580,5	K562	blood:
4	chr11:34828810..34832933-chr11:34843194..34845330,4	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10742324	0.82[ASN][1000 genomes]
rs10768101	0.85[ASN][1000 genomes]
rs1396884	0.85[ASN][1000 genomes]
rs1605879	0.85[ASN][1000 genomes]
rs1813690	0.85[ASN][1000 genomes]
rs3763937	0.81[TSI][hapmap]
rs474636	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484717	0.97[ASN][1000 genomes]
rs486710	0.97[ASN][1000 genomes]
rs490410	0.97[ASN][1000 genomes]
rs494170	0.97[ASN][1000 genomes]
rs504186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs506444	0.88[ASN][1000 genomes]
rs508324	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508536	0.97[ASN][1000 genomes]
rs513051	0.94[ASN][1000 genomes]
rs514220	0.97[ASN][1000 genomes]
rs515987	0.86[ASN][1000 genomes]
rs519858	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522585	0.97[ASN][1000 genomes]
rs535054	0.97[ASN][1000 genomes]
rs535744	0.97[ASN][1000 genomes]
rs542156	0.97[ASN][1000 genomes]
rs571164	0.97[ASN][1000 genomes]
rs6484746	0.81[TSI][hapmap]
rs704749	0.97[ASN][1000 genomes]
rs7109762	0.85[ASN][1000 genomes]
rs7110293	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938962	0.81[TSI][hapmap]
rs7941930	0.81[TSI][hapmap]
rs967751	0.83[AMR][1000 genomes];0.94[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	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv1049551	chr11:34811180-34833640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs497837	APIP	cis	Thyroid	GTEx
rs497837	DEPDC7	cis	parietal	SCAN
rs497837	APIP	cis	lung	GTEx
rs497837	APIP	cis	cerebellum	SCAN
rs497837	APIP	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34815000-34833600	Weak transcription	HepG2	liver
2	chr11:34827400-34829400	Enhancers	K562	blood
3	chr11:34828400-34831400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:34828600-34829800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34828600-34831000	Weak transcription	Stomach Mucosa	stomach
6	chr11:34828800-34829800	Weak transcription	HUVEC	blood vessel
7	chr11:34829000-34832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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