Variant report

Variant	rs7181593
Chromosome Location	chr15:51146114-51146115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51123963..51125552-chr15:51144556..51147356,2	MCF-7	breast:
2	chr15:51145363..51148284-chr15:51156189..51157773,2	MCF-7	breast:
3	chr15:51142581..51145148-chr15:51146031..51147554,2	MCF-7	breast:
4	chr15:51055716..51061075-chr15:51143847..51150435,12	MCF-7	breast:
5	chr15:51145907..51147811-chr15:51153063..51154572,2	MCF-7	breast:
6	chr15:50977226..50980517-chr15:51145919..51148890,5	MCF-7	breast:
7	chr15:51054786..51059355-chr15:51145511..51148864,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	Chromatin interaction
ENSG00000138600	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11070813	0.80[ASN][1000 genomes]
rs11070822	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1135397	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs1147129	0.87[CHD][hapmap]
rs1147138	0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1147140	0.81[ASN][1000 genomes]
rs11636886	0.85[JPT][hapmap]
rs12050528	0.87[ASN][1000 genomes]
rs12437770	0.82[CHB][hapmap]
rs12440167	0.85[JPT][hapmap]
rs12440570	0.80[JPT][hapmap]
rs12440864	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs12442145	0.80[JPT][hapmap]
rs12442197	0.81[CHB][hapmap]
rs12591438	0.92[ASN][1000 genomes]
rs12592178	0.83[ASN][1000 genomes]
rs12593342	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs12593556	0.82[CHB][hapmap]
rs12593778	0.87[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs12595051	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595526	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs1276855	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1276856	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1290084	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12904435	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs12909760	0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12911207	0.85[JPT][hapmap]
rs12916845	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs17646025	0.80[JPT][hapmap]
rs17646461	0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs17702978	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876784	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1903588	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1903589	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1904430	0.91[CHB][hapmap];0.88[CHD][hapmap]
rs2011064	0.82[CHB][hapmap]
rs2249535	0.87[CHD][hapmap]
rs2291107	0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap]
rs2306331	0.86[CHD][hapmap]
rs2574754	0.88[ASN][1000 genomes]
rs2574756	0.92[ASN][1000 genomes]
rs2614762	0.85[ASN][1000 genomes]
rs2614765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2614766	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2614774	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2614780	0.87[CHD][hapmap]
rs2614793	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs2619689	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs2619695	0.84[ASN][1000 genomes]
rs2619696	0.84[ASN][1000 genomes]
rs2663528	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2663530	0.89[ASN][1000 genomes]
rs2663533	0.86[CHD][hapmap]
rs2663542	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap]
rs2663552	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784304	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs3825798	0.87[CHB][hapmap];0.86[CHD][hapmap];0.80[JPT][hapmap]
rs3848132	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4142324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493469	0.87[CHD][hapmap]
rs7162209	0.81[CHD][hapmap]
rs7170036	0.80[ASN][1000 genomes]
rs7170675	0.87[CHD][hapmap]
rs7181201	0.84[CHD][hapmap]
rs7183420	0.81[ASN][1000 genomes]
rs72742342	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737031	0.85[JPT][hapmap]
rs8029155	0.87[CHD][hapmap]
rs8031702	0.87[CHD][hapmap]
rs8035452	0.82[CHB][hapmap]
rs8043017	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs8182062	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs936482	0.90[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	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
4	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
15	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
16	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
17	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
18	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7181593	SEMA6D	cis	parietal	SCAN
rs7181593	TRPM7	cis	lymphoblastoid	seeQTL
rs7181593	LYSMD2	cis	parietal	SCAN
rs7181593	SHF	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51141000-51146400	Weak transcription	HepG2	liver
2	chr15:51146000-51148000	Enhancers	Hela-S3	cervix
3	chr15:51146000-51149200	Enhancers	Placenta	Placenta

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