Variant report

Variant	rs12380487
Chromosome Location	chr9:15388997-15388998
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15386697..15389614-chr9:15422790..15424352,2	K562	blood:

Variant related genes	Relation type
ENSG00000164975	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10283923	0.85[CHB][hapmap]
rs10962015	0.92[CEU][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10962017	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10962048	0.82[CHB][hapmap]
rs11515069	0.84[EUR][1000 genomes]
rs12336509	0.85[CHB][hapmap]
rs12339417	0.82[CHB][hapmap]
rs12685082	1.00[CHB][hapmap]
rs13288118	0.93[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap]
rs13289935	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs13298276	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13302758	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16933270	1.00[YRI][hapmap]
rs16933311	0.85[CHB][hapmap]
rs16933316	0.85[CHB][hapmap]
rs16933320	0.82[CHB][hapmap]
rs16933326	0.82[YRI][hapmap]
rs16933330	0.82[YRI][hapmap]
rs2777950	0.82[CHB][hapmap]
rs35168725	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7021778	0.85[CHB][hapmap]
rs7847771	0.82[YRI][hapmap]
rs7855675	0.82[EUR][1000 genomes]
rs7857933	1.00[CHB][hapmap]
rs7863046	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892624	chr9:15283761-15415461	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1030287	chr9:15332709-15458001	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1032861	chr9:15378192-15410429	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1022227	chr9:15379786-15416659	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3506691	chr9:15387098-15389542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3506692	chr9:15387098-15389542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15387000-15389200	Weak transcription	K562	blood
2	chr9:15387400-15393800	Enhancers	Fetal Intestine Large	intestine
3	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine

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