Variant report

Variant	rs28795073
Chromosome Location	chr15:51927562-51927563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51914090..51916828-chr15:51923962..51929306,7	MCF-7	breast:
2	chr15:51922746..51924870-chr15:51925767..51927937,2	K562	blood:
3	chr15:51926720..51928680-chr15:51929003..51930573,2	K562	blood:
4	chr15:51922833..51924465-chr15:51927296..51928941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 213 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:208)

rs_ID	r²[population]
rs10220909	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1031664	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10438320	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10438321	0.84[AMR][1000 genomes]
rs10467923	0.86[EUR][1000 genomes]
rs10467924	0.88[EUR][1000 genomes]
rs10519312	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519313	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1077361	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10775144	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10851500	0.88[EUR][1000 genomes]
rs10851502	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070852	0.88[EUR][1000 genomes]
rs11070853	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11070854	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070855	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070856	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070857	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11070859	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070860	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070862	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11070863	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11630336	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11630743	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11630842	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11632853	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11633395	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11633713	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11634039	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11634180	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11634999	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11635216	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11635592	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11636170	0.87[EUR][1000 genomes]
rs11636428	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11638240	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12050586	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12050598	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12050600	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12101730	0.87[EUR][1000 genomes]
rs12101920	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12102203	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12372948	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12438892	0.81[EUR][1000 genomes]
rs12440990	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12441167	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12441759	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12442725	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12442803	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442947	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12443007	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12443362	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12592179	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12592653	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12592889	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12593979	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12913493	0.81[AMR][1000 genomes]
rs17524813	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17603116	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17609666	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17609693	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17609791	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17609812	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17609917	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17609924	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1902592	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1902593	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1902594	0.95[EUR][1000 genomes]
rs2124592	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2124875	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2124876	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2124877	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2124878	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2124879	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2278988	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2278989	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2278990	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2305708	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2414105	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414106	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2414107	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2414109	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2414111	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2414113	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2414114	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28376817	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28393906	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28410165	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28415556	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28428679	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28431083	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28576876	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28648597	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28680710	0.83[EUR][1000 genomes]
rs28695624	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28854610	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28866855	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2899475	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2899476	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2899477	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143721	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4143722	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4143723	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4143724	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4144941	0.88[EUR][1000 genomes]
rs4438255	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4462537	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4545756	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4774591	0.81[EUR][1000 genomes]
rs4774592	0.88[EUR][1000 genomes]
rs4774593	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4774595	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4774596	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4774597	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4774598	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4775943	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4775944	0.88[EUR][1000 genomes]
rs4775946	0.87[EUR][1000 genomes]
rs4775951	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775952	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775953	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775955	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4775956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4775958	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4775959	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4775960	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4775961	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4775963	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4775965	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4775966	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55981933	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55982453	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56189052	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60060794	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62014659	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62016017	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493499	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493500	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493501	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493503	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6493505	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493510	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493513	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67524810	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7161973	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7162361	0.87[EUR][1000 genomes]
rs7162412	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7162563	0.82[EUR][1000 genomes]
rs7165887	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7167760	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168546	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7168749	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7169753	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7169786	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7170217	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7170330	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7170444	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7171439	0.87[EUR][1000 genomes]
rs7173880	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7174435	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7174495	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7174655	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7176044	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7177471	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7177720	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7181470	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7182977	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7183435	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7183479	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7495962	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs750162	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs750163	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8023455	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8024506	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8028017	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8030121	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8030534	0.86[EUR][1000 genomes]
rs8031875	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031903	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8034197	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8035135	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8036609	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8036821	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8036904	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8037167	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8037340	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8037840	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8038203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8038341	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8039073	0.80[EUR][1000 genomes]
rs8039835	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8040080	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8040538	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040648	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8041197	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8041514	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8042221	0.88[EUR][1000 genomes]
rs8042289	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8042840	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs882385	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs882386	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9708186	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9744054	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9920124	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9920145	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9944259	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9944263	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9944264	0.83[AFR][1000 genomes];0.95[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	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
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28795073	DMXL2	cis	multi-tissue	Pritchard
rs28795073	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51926400-51927600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr15:51927400-51928200	Enhancers	K562	blood

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