Variant report

Variant	rs55982453
Chromosome Location	chr15:51951245-51951246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51950953..51953753-chr15:52026333..52028408,2	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:199)

rs_ID	r²[population]
rs10438320	0.87[EUR][1000 genomes]
rs10467924	0.80[EUR][1000 genomes]
rs10519312	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10519313	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1077361	0.84[EUR][1000 genomes]
rs10775144	0.85[EUR][1000 genomes]
rs1080394	0.81[EUR][1000 genomes]
rs10851502	0.88[EUR][1000 genomes]
rs11070851	0.80[EUR][1000 genomes]
rs11070852	0.80[EUR][1000 genomes]
rs11070853	0.84[EUR][1000 genomes]
rs11070855	0.81[EUR][1000 genomes]
rs11070856	0.81[EUR][1000 genomes]
rs11070857	0.85[EUR][1000 genomes]
rs11070859	0.85[EUR][1000 genomes]
rs11070860	0.86[EUR][1000 genomes]
rs11070862	0.86[EUR][1000 genomes]
rs11070863	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11630336	0.85[EUR][1000 genomes]
rs11631725	0.93[ASN][1000 genomes]
rs11632853	0.85[EUR][1000 genomes]
rs11633395	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11633713	0.86[EUR][1000 genomes]
rs11634039	0.85[EUR][1000 genomes]
rs11634110	0.81[EUR][1000 genomes]
rs11634180	0.85[EUR][1000 genomes]
rs11634955	0.99[ASN][1000 genomes]
rs11634999	0.83[EUR][1000 genomes]
rs11635216	0.83[EUR][1000 genomes]
rs11635592	0.80[EUR][1000 genomes]
rs11636428	0.84[EUR][1000 genomes]
rs11638106	0.93[ASN][1000 genomes]
rs11638154	0.82[ASN][1000 genomes]
rs11638240	0.82[EUR][1000 genomes]
rs12050598	0.83[EUR][1000 genomes]
rs12050600	0.83[EUR][1000 genomes]
rs12101920	0.85[EUR][1000 genomes]
rs12102203	0.80[EUR][1000 genomes]
rs12372948	0.85[EUR][1000 genomes]
rs12438892	0.83[EUR][1000 genomes]
rs12440990	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12441167	0.81[EUR][1000 genomes]
rs12441759	0.83[EUR][1000 genomes]
rs12442725	0.83[EUR][1000 genomes]
rs12442803	0.86[EUR][1000 genomes]
rs12442947	0.85[EUR][1000 genomes]
rs12443007	0.86[EUR][1000 genomes]
rs12443362	0.86[EUR][1000 genomes]
rs12592179	0.84[EUR][1000 genomes]
rs12592653	0.80[EUR][1000 genomes]
rs12593979	0.84[EUR][1000 genomes]
rs12913493	0.81[EUR][1000 genomes]
rs1456299	0.92[ASN][1000 genomes]
rs1456300	0.92[ASN][1000 genomes]
rs17524813	0.84[EUR][1000 genomes]
rs17603116	0.84[EUR][1000 genomes]
rs17609693	0.83[EUR][1000 genomes]
rs17609791	0.83[EUR][1000 genomes]
rs17609812	0.84[EUR][1000 genomes]
rs17609917	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17609924	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1902592	0.85[EUR][1000 genomes]
rs1902593	0.85[EUR][1000 genomes]
rs1902594	0.86[EUR][1000 genomes]
rs2054166	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2124592	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2124875	0.82[EUR][1000 genomes]
rs2124876	0.86[EUR][1000 genomes]
rs2124877	0.86[EUR][1000 genomes]
rs2124878	0.86[EUR][1000 genomes]
rs2124879	0.85[EUR][1000 genomes]
rs2168474	0.83[ASN][1000 genomes]
rs2278988	0.85[EUR][1000 genomes]
rs2278989	0.86[EUR][1000 genomes]
rs2278990	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2305708	0.86[EUR][1000 genomes]
rs2305716	0.91[ASN][1000 genomes]
rs2414105	0.83[EUR][1000 genomes]
rs2414106	0.83[EUR][1000 genomes]
rs2414109	0.86[EUR][1000 genomes]
rs2414111	0.86[EUR][1000 genomes]
rs2414113	0.86[EUR][1000 genomes]
rs2414114	0.86[EUR][1000 genomes]
rs2607119	0.87[ASN][1000 genomes]
rs2622775	0.83[ASN][1000 genomes]
rs28376817	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28393906	0.83[EUR][1000 genomes]
rs28410165	0.83[EUR][1000 genomes]
rs28415556	0.82[EUR][1000 genomes]
rs28428679	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28431083	0.84[EUR][1000 genomes]
rs28576876	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28648597	0.81[EUR][1000 genomes]
rs28680710	0.84[EUR][1000 genomes]
rs28695624	0.83[EUR][1000 genomes]
rs28795073	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28854610	0.84[EUR][1000 genomes]
rs28866855	0.83[EUR][1000 genomes]
rs2899475	0.85[EUR][1000 genomes]
rs2899476	0.85[EUR][1000 genomes]
rs2899477	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143721	0.83[EUR][1000 genomes]
rs4143722	0.87[EUR][1000 genomes]
rs4143723	0.83[EUR][1000 genomes]
rs4143724	0.83[EUR][1000 genomes]
rs4144941	0.80[EUR][1000 genomes]
rs4438255	0.84[EUR][1000 genomes]
rs4462537	0.84[EUR][1000 genomes]
rs4545756	0.84[EUR][1000 genomes]
rs4774589	0.82[EUR][1000 genomes]
rs4774591	0.83[EUR][1000 genomes]
rs4774592	0.80[EUR][1000 genomes]
rs4774593	0.85[EUR][1000 genomes]
rs4774595	0.85[EUR][1000 genomes]
rs4774596	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4774597	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4774598	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775943	0.83[EUR][1000 genomes]
rs4775951	0.81[EUR][1000 genomes]
rs4775952	0.83[EUR][1000 genomes]
rs4775953	0.83[EUR][1000 genomes]
rs4775955	0.83[EUR][1000 genomes]
rs4775956	0.85[EUR][1000 genomes]
rs4775958	0.86[EUR][1000 genomes]
rs4775959	0.86[EUR][1000 genomes]
rs4775960	0.86[EUR][1000 genomes]
rs4775961	0.86[EUR][1000 genomes]
rs4775963	0.86[EUR][1000 genomes]
rs4775965	0.85[EUR][1000 genomes]
rs4775966	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775968	0.92[ASN][1000 genomes]
rs55981933	0.84[EUR][1000 genomes]
rs56189052	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60060794	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62014659	0.85[EUR][1000 genomes]
rs62016017	0.86[EUR][1000 genomes]
rs6493499	0.84[EUR][1000 genomes]
rs6493500	0.84[EUR][1000 genomes]
rs6493501	0.85[EUR][1000 genomes]
rs6493503	0.85[EUR][1000 genomes]
rs6493505	0.80[EUR][1000 genomes]
rs6493510	0.85[EUR][1000 genomes]
rs6493513	0.85[EUR][1000 genomes]
rs67524810	0.84[EUR][1000 genomes]
rs7161973	0.81[EUR][1000 genomes]
rs7162412	0.83[EUR][1000 genomes]
rs7162563	0.84[EUR][1000 genomes]
rs7167760	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7168749	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7170217	0.85[EUR][1000 genomes]
rs7170330	0.81[EUR][1000 genomes]
rs7170444	0.85[EUR][1000 genomes]
rs7170980	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171884	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173880	0.80[EUR][1000 genomes]
rs7174435	0.85[EUR][1000 genomes]
rs7174495	0.90[EUR][1000 genomes]
rs7176044	0.85[EUR][1000 genomes]
rs7177471	0.86[EUR][1000 genomes]
rs7177720	0.84[EUR][1000 genomes]
rs7181470	0.83[EUR][1000 genomes]
rs7182977	0.81[EUR][1000 genomes]
rs7183435	0.81[EUR][1000 genomes]
rs7183479	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs744039	0.93[ASN][1000 genomes]
rs7495962	0.82[EUR][1000 genomes]
rs750162	0.86[EUR][1000 genomes]
rs750163	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8023455	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8024506	0.84[EUR][1000 genomes]
rs8028017	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8030121	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8031875	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8031903	0.80[EUR][1000 genomes]
rs8033234	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034197	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036609	0.81[EUR][1000 genomes]
rs8036821	0.81[EUR][1000 genomes]
rs8036904	0.81[EUR][1000 genomes]
rs8037167	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8037340	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037840	0.81[EUR][1000 genomes]
rs8038203	0.82[EUR][1000 genomes]
rs8038341	0.87[EUR][1000 genomes]
rs8039073	0.82[EUR][1000 genomes]
rs8040080	0.86[EUR][1000 genomes]
rs8040538	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8041514	0.82[EUR][1000 genomes]
rs8042289	0.86[EUR][1000 genomes]
rs8042840	0.86[EUR][1000 genomes]
rs882385	0.85[EUR][1000 genomes]
rs882386	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9708186	0.82[EUR][1000 genomes]
rs9744054	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920124	0.86[EUR][1000 genomes]
rs9920145	0.86[EUR][1000 genomes]
rs9944259	0.86[EUR][1000 genomes]
rs9944263	0.91[EUR][1000 genomes]
rs9944264	0.86[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	nsv1035967	chr15:51949866-52008736	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55982453	DMXL2	Cis_1M	lymphoblastoid	RTeQTL
rs55982453	DMXL2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51950600-51951400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:51950800-51951800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:51951000-51951400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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