Variant report

Variant	rs6493494
Chromosome Location	chr15:51549835-51549836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51548814..51552168-chr15:51553666..51555860,3	K562	blood:
2	chr15:51533678..51535712-chr15:51548197..51550089,2	MCF-7	breast:
3	chr15:51543184..51545440-chr15:51549308..51552637,3	K562	blood:

Variant related genes	Relation type
ENSG00000266593	Chromatin interaction
ENSG00000137869	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10459592	0.85[JPT][hapmap]
rs10519297	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.89[ASN][1000 genomes]
rs10519299	0.92[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.92[LWK][hapmap];0.83[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1062033	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1065778	0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.84[ASN][1000 genomes]
rs10851498	0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11632036	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11632903	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs11632926	0.94[EUR][1000 genomes]
rs11633715	0.90[ASN][1000 genomes]
rs11636403	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636639	0.94[EUR][1000 genomes]
rs11636667	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11636686	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11856927	0.81[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050767	1.00[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs12050772	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12900487	0.83[CHD][hapmap];0.90[JPT][hapmap];0.82[MKK][hapmap];0.84[ASN][1000 genomes]
rs12901187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907866	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12908960	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910259	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17523270	0.81[CHD][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17523284	0.84[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17523527	0.95[EUR][1000 genomes]
rs17523541	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17601876	0.85[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2414096	0.85[ASN][1000 genomes]
rs2414100	0.93[EUR][1000 genomes]
rs2414101	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs28440805	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28490942	0.91[EUR][1000 genomes]
rs28518777	0.95[EUR][1000 genomes]
rs28520437	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28637352	0.92[EUR][1000 genomes]
rs28674681	0.94[EUR][1000 genomes]
rs2899474	0.93[EUR][1000 genomes]
rs34712049	0.94[EUR][1000 genomes]
rs34784350	0.94[EUR][1000 genomes]
rs35241865	0.90[ASN][1000 genomes]
rs35808887	0.90[ASN][1000 genomes]
rs35939475	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3759811	0.84[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.85[ASN][1000 genomes]
rs3889391	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs4545755	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774584	1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs4775936	0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56097510	0.86[ASN][1000 genomes]
rs61018102	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs700518	0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.85[ASN][1000 genomes]
rs7176330	0.85[ASN][1000 genomes]
rs7181429	0.83[GIH][hapmap];0.89[EUR][1000 genomes]
rs749292	1.00[CEU][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs767199	0.93[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs8028111	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8029537	0.95[EUR][1000 genomes]
rs8038715	0.94[EUR][1000 genomes]
rs8039089	1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs8041967	0.87[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs8042086	1.00[CEU][hapmap];0.82[GIH][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	80 gene(s)	inside rSNPs	diseases
4	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6493494	TMOD2	cis	cerebellum	SCAN
rs6493494	USP8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51524800-51574000	Weak transcription	HepG2	liver
2	chr15:51542000-51550600	Genic enhancers	Placenta	Placenta
3	chr15:51545400-51553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:51546200-51552000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:51546400-51551600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:51549200-51550600	Enhancers	Pancreas	Pancrea
7	chr15:51549600-51551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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