Variant report

Variant	rs8138286
Chromosome Location	chr22:30562987-30562988
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30562125..30563712-chr22:30568524..30571379,2	MCF-7	breast:
2	chr22:30562803..30564528-chr22:30605474..30607789,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10048885	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090598	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12167333	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12168499	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12171061	0.86[EUR][1000 genomes]
rs12171250	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171263	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17648725	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs193473	0.83[EUR][1000 genomes]
rs193481	0.84[EUR][1000 genomes]
rs1978083	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412960	0.96[CEU][hapmap]
rs2412963	0.96[CEU][hapmap]
rs28257	0.82[EUR][1000 genomes]
rs3788423	0.95[CEU][hapmap]
rs41162	1.00[CEU][hapmap]
rs41164	0.95[CEU][hapmap]
rs41172	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs41174	0.87[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs41175	0.84[EUR][1000 genomes]
rs41177	0.80[CEU][hapmap]
rs41179	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4239932	0.95[CEU][hapmap]
rs4239933	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4337577	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4823070	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs718772	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs737909	0.95[CEU][hapmap]
rs737912	0.96[CEU][hapmap]
rs7510705	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8135823	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141404	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8141765	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620943	0.86[EUR][1000 genomes]
rs9620953	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625919	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625926	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625931	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9625933	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625935	0.90[AMR][1000 genomes];0.95[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30557600-30563400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30558200-30563000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:30558200-30563000	Weak transcription	Thymus	Thymus
4	chr22:30558200-30563800	Weak transcription	Dnd41	blood
5	chr22:30558400-30564400	Weak transcription	Fetal Thymus	thymus
6	chr22:30562600-30563000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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