Variant report

Variant	rs8039255
Chromosome Location	chr15:51865425-51865426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1031664	0.81[AMR][1000 genomes]
rs10519312	0.81[AMR][1000 genomes]
rs10519313	0.81[AMR][1000 genomes]
rs1077361	0.85[AMR][1000 genomes]
rs10775144	0.80[AMR][1000 genomes]
rs11070853	0.80[AMR][1000 genomes]
rs11070855	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11070856	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11070859	0.83[AMR][1000 genomes]
rs11070860	0.83[AMR][1000 genomes]
rs11070862	0.81[AMR][1000 genomes]
rs11630336	0.83[AMR][1000 genomes]
rs11632853	0.81[AMR][1000 genomes]
rs11633713	0.83[AMR][1000 genomes]
rs11634039	0.82[AMR][1000 genomes]
rs11634180	0.82[AMR][1000 genomes]
rs11634999	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11635216	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11635592	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11636428	0.82[AMR][1000 genomes]
rs12050598	0.83[AMR][1000 genomes]
rs12050600	0.83[AMR][1000 genomes]
rs12101920	0.83[AMR][1000 genomes]
rs12440990	0.80[AMR][1000 genomes]
rs12441167	0.82[AMR][1000 genomes]
rs12441759	0.81[AMR][1000 genomes]
rs12442725	0.87[AMR][1000 genomes]
rs12442803	0.80[AMR][1000 genomes]
rs12442947	0.83[AMR][1000 genomes]
rs12443007	0.83[AMR][1000 genomes]
rs12443362	0.83[AMR][1000 genomes]
rs12592653	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12593979	0.81[AMR][1000 genomes]
rs17609666	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17609693	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17609791	0.87[AMR][1000 genomes]
rs17609812	0.87[AMR][1000 genomes]
rs17609917	0.81[AMR][1000 genomes]
rs17609924	0.81[AMR][1000 genomes]
rs1902592	0.85[AMR][1000 genomes]
rs1902593	0.85[AMR][1000 genomes]
rs2124875	0.81[AMR][1000 genomes]
rs2124876	0.83[AMR][1000 genomes]
rs2124877	0.83[AMR][1000 genomes]
rs2124878	0.83[AMR][1000 genomes]
rs2278989	0.80[AMR][1000 genomes]
rs2278990	0.81[AMR][1000 genomes]
rs2305708	0.80[AMR][1000 genomes]
rs2414105	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2414106	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2414107	0.86[AMR][1000 genomes]
rs2414109	0.81[AMR][1000 genomes]
rs2414111	0.81[AMR][1000 genomes]
rs2414113	0.80[AMR][1000 genomes]
rs2414114	0.83[AMR][1000 genomes]
rs28376817	0.81[AMR][1000 genomes]
rs28393906	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28410165	0.87[AMR][1000 genomes]
rs28428679	0.81[AMR][1000 genomes]
rs28648597	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28695624	0.87[AMR][1000 genomes]
rs28866855	0.84[AMR][1000 genomes]
rs2899475	0.85[AMR][1000 genomes]
rs2899476	0.80[AMR][1000 genomes]
rs4143721	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4143722	0.83[AMR][1000 genomes]
rs4143723	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4143724	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4438255	0.84[AMR][1000 genomes]
rs4462537	0.80[AMR][1000 genomes]
rs4545756	0.87[AMR][1000 genomes]
rs4774593	0.81[AMR][1000 genomes]
rs4774595	0.82[AMR][1000 genomes]
rs4774596	0.81[AMR][1000 genomes]
rs4775951	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4775952	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4775953	0.85[AMR][1000 genomes]
rs4775955	0.87[AMR][1000 genomes]
rs4775956	0.85[AMR][1000 genomes]
rs4775958	0.83[AMR][1000 genomes]
rs4775959	0.83[AMR][1000 genomes]
rs4775960	0.83[AMR][1000 genomes]
rs4775961	0.82[AMR][1000 genomes]
rs4775963	0.81[AMR][1000 genomes]
rs4775965	0.83[AMR][1000 genomes]
rs4775966	0.81[AMR][1000 genomes]
rs62016017	0.80[AMR][1000 genomes]
rs6493503	0.81[AMR][1000 genomes]
rs6493505	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6493510	0.83[AMR][1000 genomes]
rs6493513	0.80[AMR][1000 genomes]
rs7161973	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7168546	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7170217	0.83[AMR][1000 genomes]
rs7170330	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7170444	0.83[AMR][1000 genomes]
rs7174435	0.82[AMR][1000 genomes]
rs7174655	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7176044	0.82[AMR][1000 genomes]
rs7177720	0.83[AMR][1000 genomes]
rs7182977	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7495962	0.86[AMR][1000 genomes]
rs750162	0.83[AMR][1000 genomes]
rs750163	0.81[AMR][1000 genomes]
rs8028017	0.81[AMR][1000 genomes]
rs8031903	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8035135	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8036609	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8036821	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8036904	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8037167	0.80[AMR][1000 genomes]
rs8037840	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8038203	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8038341	0.83[AMR][1000 genomes]
rs8039835	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8040080	0.83[AMR][1000 genomes]
rs8040538	0.81[AMR][1000 genomes]
rs8040648	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8041197	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8041514	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8042289	0.83[AMR][1000 genomes]
rs8042840	0.83[AMR][1000 genomes]
rs882385	0.85[AMR][1000 genomes]
rs9708186	0.88[AMR][1000 genomes]
rs9920124	0.83[AMR][1000 genomes]
rs9920145	0.80[AMR][1000 genomes]
rs9944259	0.83[AMR][1000 genomes]
rs9944264	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv569405	chr15:51791559-51890282	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv457138	chr15:51838719-51890282	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv569406	chr15:51838719-51890282	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8039255	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51828800-51868000	Weak transcription	Adipose Nuclei	Adipose
2	chr15:51828800-51868200	Weak transcription	Fetal Intestine Large	intestine
3	chr15:51829000-51868800	Weak transcription	A549	lung
4	chr15:51831400-51868800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:51836800-51869000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:51839400-51868600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:51850800-51867400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:51851400-51868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:51851800-51865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:51854000-51868800	Weak transcription	Ovary	ovary
11	chr15:51855400-51868600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr15:51861800-51866200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:51861800-51868800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:51862000-51868200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:51862400-51866200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:51862400-51867200	Weak transcription	K562	blood

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