Variant report

Variant	rs7928060
Chromosome Location	chr11:34420930-34420931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34418166..34421088-chr11:34425420..34427694,2	K562	blood:

Variant related genes	Relation type
ENSG00000220204	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1000768	0.83[JPT][hapmap]
rs1014749	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1033509	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10742316	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12360995	0.83[JPT][hapmap]
rs1925369	0.89[YRI][hapmap]
rs2022322	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076556	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs208675	0.82[ASN][1000 genomes]
rs208677	0.82[ASN][1000 genomes]
rs208680	0.81[ASN][1000 genomes]
rs208681	0.81[ASN][1000 genomes]
rs208682	0.81[ASN][1000 genomes]
rs208683	0.81[ASN][1000 genomes]
rs2092486	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300182	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs2745917	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2746161	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2746169	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4756146	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs489554	0.80[ASN][1000 genomes]
rs5026711	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.82[MKK][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs564250	0.82[ASN][1000 genomes]
rs61880787	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61880808	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7102889	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7106485	0.80[CHB][hapmap]
rs7927163	0.84[AFR][1000 genomes];0.85[ASN][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	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7928060	C11orf74	cis	parietal	SCAN
rs7928060	CAT	cis	multi-tissue	Pritchard
rs7928060	CAT	cis	parietal	SCAN
rs7928060	CAT	cis	cerebellum	SCAN
rs7928060	CAT	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34418600-34421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:34419000-34421000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:34419000-34428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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