Variant report

Variant	rs1902594
Chromosome Location	chr15:51905498-51905499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51904892..51907829-chr15:51916271..51917973,2	MCF-7	breast:
2	chr15:51904383..51907963-chr15:51911974..51914714,3	K562	blood:
3	chr15:51871179..51874131-chr15:51904506..51906716,2	K562	blood:
4	chr15:51892783..51896070-chr15:51903536..51906578,4	K562	blood:

Variant related genes	Relation type
ENSG00000104093	Chromatin interaction

Extended variants
information (count: 229 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:224)

rs_ID	r²[population]
rs10220909	0.90[EUR][1000 genomes]
rs1031664	0.91[EUR][1000 genomes]
rs10438320	0.94[EUR][1000 genomes]
rs10438321	0.81[EUR][1000 genomes]
rs10467923	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10467924	0.93[EUR][1000 genomes]
rs10519312	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10519313	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1077361	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10775144	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1080394	0.83[EUR][1000 genomes]
rs10851500	0.93[EUR][1000 genomes]
rs10851502	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070851	0.83[EUR][1000 genomes]
rs11070852	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11070853	0.87[EUR][1000 genomes]
rs11070854	0.92[EUR][1000 genomes]
rs11070855	0.94[EUR][1000 genomes]
rs11070856	0.94[EUR][1000 genomes]
rs11070857	0.89[EUR][1000 genomes]
rs11070859	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11070860	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11070862	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070863	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11630336	0.93[EUR][1000 genomes]
rs11630743	0.87[EUR][1000 genomes]
rs11630842	0.87[EUR][1000 genomes]
rs11631408	0.83[EUR][1000 genomes]
rs11632853	0.89[EUR][1000 genomes]
rs11633395	0.98[EUR][1000 genomes]
rs11633713	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11634039	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11634110	0.84[EUR][1000 genomes]
rs11634180	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11634999	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11635216	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11635592	0.93[EUR][1000 genomes]
rs11636170	0.92[EUR][1000 genomes]
rs11636428	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11638240	0.86[EUR][1000 genomes]
rs12050586	0.85[EUR][1000 genomes]
rs12050598	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12050600	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12101730	0.92[EUR][1000 genomes]
rs12101920	0.89[EUR][1000 genomes]
rs12102203	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12372948	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12438892	0.85[EUR][1000 genomes]
rs12440990	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441167	0.94[EUR][1000 genomes]
rs12441759	0.85[EUR][1000 genomes]
rs12442725	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12442803	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442947	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12443007	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12443362	0.90[EUR][1000 genomes]
rs12592179	0.87[EUR][1000 genomes]
rs12592653	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12592889	0.92[EUR][1000 genomes]
rs12593979	0.86[EUR][1000 genomes]
rs12913493	0.82[EUR][1000 genomes]
rs17524813	0.88[EUR][1000 genomes]
rs17603116	0.88[EUR][1000 genomes]
rs17609666	0.93[EUR][1000 genomes]
rs17609693	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17609791	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17609812	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17609917	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17609924	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1869930	0.92[ASN][1000 genomes]
rs1902592	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1902593	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2124591	0.89[ASN][1000 genomes]
rs2124592	0.91[EUR][1000 genomes]
rs2124875	0.86[EUR][1000 genomes]
rs2124876	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124877	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124878	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124879	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2278988	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2278989	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2278990	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2305708	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2414105	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414106	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414107	0.87[EUR][1000 genomes]
rs2414109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414111	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414113	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414114	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2607111	0.94[ASN][1000 genomes]
rs2607113	0.94[ASN][1000 genomes]
rs2607118	0.86[ASN][1000 genomes]
rs2622767	0.88[ASN][1000 genomes]
rs2622773	0.88[ASN][1000 genomes]
rs2622774	0.86[ASN][1000 genomes]
rs28376817	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28393906	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28410165	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28415556	0.85[EUR][1000 genomes]
rs28428679	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28431083	0.88[EUR][1000 genomes]
rs28576876	0.86[EUR][1000 genomes]
rs28648597	0.94[EUR][1000 genomes]
rs28680710	0.88[EUR][1000 genomes]
rs28695624	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28795073	0.95[EUR][1000 genomes]
rs28854610	0.88[EUR][1000 genomes]
rs28866855	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2899475	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899476	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2899477	0.93[EUR][1000 genomes]
rs3736485	0.82[EUR][1000 genomes]
rs4143721	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4143722	0.91[EUR][1000 genomes]
rs4143723	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4143724	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4144941	0.93[EUR][1000 genomes]
rs4438255	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4462537	0.88[EUR][1000 genomes]
rs4545756	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4774589	0.83[EUR][1000 genomes]
rs4774591	0.86[EUR][1000 genomes]
rs4774592	0.93[EUR][1000 genomes]
rs4774593	0.89[EUR][1000 genomes]
rs4774595	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4774596	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4774597	0.94[EUR][1000 genomes]
rs4774598	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4775943	0.86[EUR][1000 genomes]
rs4775944	0.93[EUR][1000 genomes]
rs4775946	0.92[EUR][1000 genomes]
rs4775951	0.94[EUR][1000 genomes]
rs4775952	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775953	0.96[EUR][1000 genomes]
rs4775955	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775956	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4775958	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4775959	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4775960	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4775961	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4775963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4775965	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4775966	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55981933	0.88[EUR][1000 genomes]
rs55982453	0.86[EUR][1000 genomes]
rs56189052	0.89[EUR][1000 genomes]
rs60060794	0.89[EUR][1000 genomes]
rs62014659	0.89[EUR][1000 genomes]
rs62016017	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6493498	0.84[EUR][1000 genomes]
rs6493499	0.88[EUR][1000 genomes]
rs6493500	0.88[EUR][1000 genomes]
rs6493501	0.89[EUR][1000 genomes]
rs6493503	0.89[EUR][1000 genomes]
rs6493505	0.93[EUR][1000 genomes]
rs6493510	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6493513	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67524810	0.88[EUR][1000 genomes]
rs7161973	0.94[EUR][1000 genomes]
rs7162361	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7162412	0.85[EUR][1000 genomes]
rs7162563	0.87[EUR][1000 genomes]
rs7165887	0.88[EUR][1000 genomes]
rs7167760	0.93[EUR][1000 genomes]
rs7168546	0.91[EUR][1000 genomes]
rs7168749	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7169753	0.92[EUR][1000 genomes]
rs7169786	0.92[EUR][1000 genomes]
rs7170217	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7170330	0.94[EUR][1000 genomes]
rs7170444	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7171439	0.92[EUR][1000 genomes]
rs7173880	0.93[EUR][1000 genomes]
rs7174435	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7174495	0.94[EUR][1000 genomes]
rs7174655	0.87[EUR][1000 genomes]
rs7176044	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7177471	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7177720	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7181470	0.86[EUR][1000 genomes]
rs7182977	0.94[EUR][1000 genomes]
rs7183435	0.93[EUR][1000 genomes]
rs7183479	0.89[EUR][1000 genomes]
rs7495962	0.95[EUR][1000 genomes]
rs750162	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs750163	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8023455	0.89[EUR][1000 genomes]
rs8024506	0.88[EUR][1000 genomes]
rs8028017	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8030121	0.93[EUR][1000 genomes]
rs8030534	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8031875	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8031903	0.93[EUR][1000 genomes]
rs8034197	0.91[EUR][1000 genomes]
rs8035135	0.92[EUR][1000 genomes]
rs8036609	0.94[EUR][1000 genomes]
rs8036821	0.94[EUR][1000 genomes]
rs8036904	0.94[EUR][1000 genomes]
rs8037167	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8037340	0.95[EUR][1000 genomes]
rs8037840	0.94[EUR][1000 genomes]
rs8038203	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8038341	0.91[EUR][1000 genomes]
rs8039073	0.85[EUR][1000 genomes]
rs8039835	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8040080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040648	0.91[EUR][1000 genomes]
rs8041197	0.91[EUR][1000 genomes]
rs8041514	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8042221	0.93[EUR][1000 genomes]
rs8042289	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042840	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs882385	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs882386	0.92[EUR][1000 genomes]
rs9708186	0.96[EUR][1000 genomes]
rs9744054	0.93[EUR][1000 genomes]
rs9806598	0.80[EUR][1000 genomes]
rs9920124	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9920145	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944259	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944263	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9944264	0.85[AMR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1902594	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51889400-51909400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51892600-51913000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:51893000-51911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:51894000-51906000	Weak transcription	Dnd41	blood
5	chr15:51895000-51911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:51895200-51913000	Weak transcription	HMEC	breast
7	chr15:51897200-51910800	Weak transcription	A549	lung
8	chr15:51902600-51909600	Weak transcription	K562	blood
9	chr15:51903600-51913600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:51904200-51907400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:51904200-51911600	Weak transcription	Brain Germinal Matrix	brain
12	chr15:51904200-51914000	Weak transcription	Lung	lung
13	chr15:51904400-51912800	Weak transcription	Fetal Stomach	stomach
14	chr15:51904800-51905800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:51905200-51905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:51905200-51905800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:51905200-51906000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:51905200-51906000	Weak transcription	Fetal Intestine Small	intestine
19	chr15:51905200-51907400	Weak transcription	Hela-S3	cervix
20	chr15:51905200-51911400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:51905200-51912800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:51905200-51913000	Weak transcription	NHDF-Ad	bronchial
23	chr15:51905400-51911400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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