Variant report

Variant	rs11990550
Chromosome Location	chr8:10797831-10797832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10903332	0.86[ASN][1000 genomes]
rs10903333	0.86[ASN][1000 genomes]
rs11250093	1.00[CHB][hapmap]
rs11250094	1.00[CHB][hapmap]
rs11776368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11777034	0.87[ASN][1000 genomes]
rs11780501	0.87[ASN][1000 genomes]
rs11783247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11986699	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11993591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12546366	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs34497451	1.00[ASN][1000 genomes]
rs35077714	0.80[ASN][1000 genomes]
rs4240673	1.00[CHB][hapmap]
rs4256557	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4520127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4554431	0.93[ASN][1000 genomes]
rs4841458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4841460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4841461	0.93[ASN][1000 genomes]
rs6984496	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6988281	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6992103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7005884	1.00[CHB][hapmap]
rs7015168	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7016385	1.00[CHB][hapmap]
rs7814762	0.93[ASN][1000 genomes]
rs7823296	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7843470	0.87[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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription 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 miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv522127	chr8:10797831-10815515	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11990550	DEFB134	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10795800-10805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10796000-10799800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10797200-10798000	Enhancers	Spleen	Spleen
4	chr8:10797600-10807200	Weak transcription	Right Atrium	heart
5	chr8:10797800-10798000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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