Variant report

Variant	rs2911595
Chromosome Location	chr1:85050406-85050407
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	chr1:85038375..85040113-chr1:85048931..85050517,2	MCF-7	breast:
2	chr1:84967877..84971482-chr1:85048294..85051877,3	K562	blood:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10874451	1.00[CHB][hapmap]
rs12125418	0.86[CHB][hapmap]
rs1850508	0.86[EUR][1000 genomes]
rs1850509	0.85[EUR][1000 genomes]
rs2007454	0.85[EUR][1000 genomes]
rs2203455	0.95[ASN][1000 genomes]
rs2911590	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs2911597	0.90[ASN][1000 genomes]
rs2911603	0.86[EUR][1000 genomes]
rs2911604	0.86[EUR][1000 genomes]
rs2911605	0.86[EUR][1000 genomes]
rs2943663	0.86[EUR][1000 genomes]
rs2943670	0.83[EUR][1000 genomes]
rs2943671	0.98[ASN][1000 genomes]
rs2943675	0.90[EUR][1000 genomes]
rs2943676	0.88[EUR][1000 genomes]
rs2943677	0.90[EUR][1000 genomes]
rs2943678	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945140	0.86[EUR][1000 genomes]
rs2945142	0.86[EUR][1000 genomes]
rs2945143	0.88[ASN][1000 genomes]
rs2945145	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2945146	0.86[EUR][1000 genomes]
rs2945147	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2945148	0.86[EUR][1000 genomes]
rs2945149	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945150	0.89[EUR][1000 genomes]
rs2945152	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs2945155	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945158	0.90[EUR][1000 genomes]
rs2945160	0.90[EUR][1000 genomes]
rs2994938	0.84[ASN][1000 genomes]
rs2994940	0.86[EUR][1000 genomes]
rs2994943	0.91[EUR][1000 genomes]
rs2994944	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2994946	0.90[EUR][1000 genomes]
rs2994947	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4907079	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6690204	0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2911595	BCL10	cis	cerebellum	SCAN
rs2911595	STAB1	trans	cerebellum	SCAN
rs2911595	CTBS	cis	parietal	SCAN
rs2911595	CTBS	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:85043000-85050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:85044200-85050800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:85049200-85053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:85050000-85050800	Weak transcription	Spleen	Spleen
6	chr1:85050000-85053200	Weak transcription	Fetal Brain Male	brain
7	chr1:85050200-85050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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