Variant report

Variant	rs7183479
Chromosome Location	chr15:51942207-51942208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51942035..51944458-chr15:52068253..52069914,2	K562	blood:
2	chr15:51941765..51942808-chr15:52067729..52069864,21	K562	blood:
3	chr15:51941390..51943585-chr15:52073492..52075447,2	K562	blood:
4	chr15:51939565..51943710-chr15:52029015..52031702,3	MCF-7	breast:
5	chr15:51940800..51942364-chr15:52071876..52074244,2	K562	blood:
6	chr15:51933560..51938280-chr15:51939228..51942863,5	MCF-7	breast:
7	chr15:51941637..51943668-chr15:52068078..52069917,57	MCF-7	breast:
8	chr15:51941829..51942488-chr15:52067554..52068054,2	MCF-7	breast:
9	chr15:51939928..51943794-chr15:52067782..52071460,6	MCF-7	breast:
10	chr15:51940521..51942581-chr15:52121824..52123791,2	MCF-7	breast:
11	chr15:51942145..51943860-chr15:52018594..52020287,2	K562	blood:
12	chr15:51938680..51944458-chr15:52065543..52071230,9	K562	blood:
13	chr15:51941554..51943046-chr15:52068074..52069805,23	MCF-7	breast:
14	chr15:51942152..51942788-chr15:52431755..52432640,2	K562	blood:
15	chr15:51941822..51942724-chr15:52027267..52028353,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140280	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000128872	Chromatin interaction

Extended variants
information (count: 207 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:202)

rs_ID	r²[population]
rs10220909	0.80[EUR][1000 genomes]
rs1031664	0.96[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes]
rs10438320	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10467923	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10467924	0.83[EUR][1000 genomes]
rs10519312	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10519313	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1077361	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10775144	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1080394	0.89[CEU][hapmap]
rs10851500	0.82[EUR][1000 genomes]
rs10851502	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11070852	0.83[EUR][1000 genomes]
rs11070854	0.82[EUR][1000 genomes]
rs11070855	0.84[EUR][1000 genomes]
rs11070856	0.84[EUR][1000 genomes]
rs11070857	0.93[CEU][hapmap]
rs11070859	0.96[CEU][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11070860	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070862	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070863	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11630336	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11630842	0.89[CEU][hapmap];0.92[YRI][hapmap]
rs11631408	0.91[CEU][hapmap]
rs11631725	0.94[CHB][hapmap];0.96[YRI][hapmap]
rs11632853	0.82[AMR][1000 genomes]
rs11633395	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11633713	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11634039	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11634180	0.96[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11634999	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11635216	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs11635592	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs11636170	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs11636428	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11638106	0.94[CHB][hapmap];0.96[YRI][hapmap]
rs11638154	0.96[YRI][hapmap]
rs12050598	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12050600	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12101730	0.81[EUR][1000 genomes]
rs12101920	0.80[AMR][1000 genomes]
rs12102203	0.83[EUR][1000 genomes]
rs12372948	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12438892	0.93[CEU][hapmap];0.81[YRI][hapmap]
rs12440990	0.96[CEU][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12441167	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442725	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12442803	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12442947	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12443007	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12443362	0.84[AMR][1000 genomes]
rs12592653	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12592889	0.82[EUR][1000 genomes]
rs1456299	0.94[CHB][hapmap]
rs16964357	0.88[YRI][hapmap]
rs17609666	0.82[EUR][1000 genomes]
rs17609693	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17609791	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17609812	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17609917	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17609924	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1902592	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1902593	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1902594	0.89[EUR][1000 genomes]
rs2054166	0.94[CHB][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes]
rs2124592	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2124875	0.92[CEU][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs2124876	0.96[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2124877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2124878	0.96[CEU][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2124879	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278988	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278989	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2278990	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2305708	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305716	0.94[CHB][hapmap];0.96[YRI][hapmap]
rs2414105	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2414106	0.96[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2414107	0.83[AMR][1000 genomes]
rs2414109	0.96[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2414111	0.96[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2414113	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2414114	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2607119	0.94[CHB][hapmap]
rs2622775	0.90[CHB][hapmap];0.82[YRI][hapmap]
rs28376817	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28393906	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28410165	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28428679	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28576876	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28648597	0.84[EUR][1000 genomes]
rs28695624	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28795073	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28866855	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2899475	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899477	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736485	0.96[CEU][hapmap];0.80[YRI][hapmap]
rs4143721	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4143722	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4143723	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4143724	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4144941	0.83[EUR][1000 genomes]
rs4438255	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4462537	0.81[AMR][1000 genomes]
rs4545756	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4774590	0.83[YRI][hapmap]
rs4774591	0.93[CEU][hapmap]
rs4774592	0.83[EUR][1000 genomes]
rs4774593	0.82[AMR][1000 genomes]
rs4774595	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4774596	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4774597	0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4774598	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4775943	0.92[CEU][hapmap];0.83[YRI][hapmap]
rs4775944	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs4775946	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs4775951	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4775952	0.86[EUR][1000 genomes]
rs4775953	0.96[CEU][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775955	0.96[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775956	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4775958	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775959	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775960	0.96[CEU][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775961	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775963	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775965	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4775966	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4775968	0.94[CHB][hapmap];0.96[YRI][hapmap]
rs55982453	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60060794	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62016017	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6493498	0.92[CEU][hapmap]
rs6493501	0.80[AMR][1000 genomes]
rs6493503	0.82[AMR][1000 genomes]
rs6493505	0.96[CEU][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493510	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493513	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7161973	0.84[EUR][1000 genomes]
rs7162361	0.82[EUR][1000 genomes]
rs7165887	0.89[CEU][hapmap];0.92[YRI][hapmap]
rs7167760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7168546	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7168749	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7169753	0.82[EUR][1000 genomes]
rs7169786	0.82[EUR][1000 genomes]
rs7170217	0.96[CEU][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7170330	0.84[EUR][1000 genomes]
rs7170444	0.91[CEU][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7170980	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7171439	0.81[EUR][1000 genomes]
rs7171884	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7173880	0.83[EUR][1000 genomes]
rs7174435	0.96[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7174495	0.92[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7176044	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7177471	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7177720	0.96[CEU][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7182977	0.84[EUR][1000 genomes]
rs7183435	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs744039	0.94[CHB][hapmap];0.96[YRI][hapmap]
rs7495962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs750162	0.96[CEU][hapmap];0.80[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs750163	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8023455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8028017	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8030121	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8030534	0.81[EUR][1000 genomes]
rs8031875	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8031903	0.83[EUR][1000 genomes]
rs8033234	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8034197	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8035135	0.81[EUR][1000 genomes]
rs8036609	0.84[EUR][1000 genomes]
rs8036821	0.84[EUR][1000 genomes]
rs8036904	0.84[EUR][1000 genomes]
rs8037167	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8037340	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8037840	0.84[EUR][1000 genomes]
rs8038203	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8038341	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8039835	0.83[EUR][1000 genomes]
rs8040080	0.96[CEU][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8040538	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8040648	0.80[EUR][1000 genomes]
rs8041197	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8041514	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8042221	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs8042289	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8042840	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs882385	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs882386	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs930920	0.80[CEU][hapmap];0.84[YRI][hapmap]
rs9708186	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9744054	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9920124	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9920145	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9944241	0.92[CEU][hapmap];0.81[YRI][hapmap]
rs9944259	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9944263	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9944264	0.88[AMR][1000 genomes];0.89[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
rs7183479	DMXL2	cis	multi-tissue	Pritchard
rs7183479	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51940000-51943000	Weak transcription	K562	blood
2	chr15:51942000-51942400	Enhancers	Monocytes-CD14+_RO01746	blood

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