Variant report

Variant	rs10861143
Chromosome Location	chr12:104308477-104308478
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	chr12:104306797..104308718-chr12:104309214..104313251,3	MCF-7	breast:
2	chr12:104299931..104303136-chr12:104307150..104309681,4	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10745984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10778292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10778306	0.86[MKK][hapmap];0.87[YRI][hapmap]
rs10861131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs10861142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111815	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11111831	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11111834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111845	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs12302488	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12369947	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371102	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17034938	0.91[CEU][hapmap];1.00[MEX][hapmap]
rs2033729	0.83[AMR][1000 genomes]
rs2576969	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs3812801	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs4135138	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7964281	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971563	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9308316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10861143	HSP90B1	cis	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104304200-104309200	Weak transcription	HSMM	muscle
2	chr12:104304400-104309000	Weak transcription	HSMMtube	muscle
3	chr12:104306200-104309800	Weak transcription	Aorta	Aorta
4	chr12:104306200-104320800	Weak transcription	Psoas Muscle	Psoas
5	chr12:104306400-104309000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104306800-104310400	Enhancers	Fetal Muscle Leg	muscle

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