Variant report

Variant	rs325195
Chromosome Location	chr5:98321530-98321531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98263523..98265530-chr5:98319881..98323105,3	K562	blood:
2	chr5:98263262..98265632-chr5:98320644..98322475,2	MCF-7	breast:
3	chr5:98261777..98266971-chr5:98317922..98324645,8	K562	blood:
4	chr5:98319399..98322324-chr5:98333991..98335687,2	K562	blood:
5	chr5:98320467..98322089-chr5:98322877..98325395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10037147	0.88[ASN][1000 genomes]
rs10038192	1.00[ASN][1000 genomes]
rs10040066	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs10041261	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10050423	0.93[ASN][1000 genomes]
rs10050804	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10076291	0.83[ASN][1000 genomes]
rs10477857	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10479345	0.83[ASN][1000 genomes]
rs10479346	0.83[ASN][1000 genomes]
rs10479348	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1093794	1.00[ASN][1000 genomes]
rs1104262	1.00[ASN][1000 genomes]
rs11242567	1.00[CHB][hapmap]
rs11242574	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11745405	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11949103	0.83[ASN][1000 genomes]
rs11950452	0.83[ASN][1000 genomes]
rs11960896	0.83[ASN][1000 genomes]
rs12189335	0.83[ASN][1000 genomes]
rs12515042	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13179812	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1472622	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs150935	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs151102	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs152034	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1604450	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs161729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161731	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs161732	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs161736	1.00[YRI][hapmap]
rs161739	1.00[YRI][hapmap]
rs161744	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs161745	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs161746	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs161749	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs161750	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs161935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs161936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs161940	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs161943	0.85[AMR][1000 genomes]
rs161947	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs161957	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs162341	0.98[ASN][1000 genomes]
rs167798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172874	0.98[ASN][1000 genomes]
rs1875529	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2221268	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2447826	0.81[AMR][1000 genomes]
rs2455423	1.00[ASN][1000 genomes]
rs246251	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545680	1.00[YRI][hapmap]
rs2545733	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2545735	1.00[YRI][hapmap]
rs2545737	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2545739	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2578576	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2578577	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2662256	0.83[YRI][hapmap]
rs2927647	0.98[ASN][1000 genomes]
rs2927648	1.00[ASN][1000 genomes]
rs2927654	1.00[ASN][1000 genomes]
rs2937706	1.00[ASN][1000 genomes]
rs2937708	1.00[ASN][1000 genomes]
rs2937709	1.00[ASN][1000 genomes]
rs325199	1.00[YRI][hapmap]
rs325203	1.00[YRI][hapmap]
rs325204	1.00[YRI][hapmap]
rs325208	1.00[YRI][hapmap]
rs325209	0.83[YRI][hapmap]
rs325220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs326480	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs326481	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs326482	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs326493	0.98[ASN][1000 genomes]
rs327807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs331542	1.00[YRI][hapmap]
rs34488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34489	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs34490	1.00[ASN][1000 genomes]
rs34491	0.98[ASN][1000 genomes]
rs34496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34497	0.98[ASN][1000 genomes]
rs34498	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs363929	0.98[ASN][1000 genomes]
rs366000	1.00[ASN][1000 genomes]
rs366353	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs370529	0.98[ASN][1000 genomes]
rs378089	1.00[ASN][1000 genomes]
rs380156	1.00[ASN][1000 genomes]
rs393697	1.00[ASN][1000 genomes]
rs395668	0.98[ASN][1000 genomes]
rs39660	0.95[CEU][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs398436	1.00[ASN][1000 genomes]
rs40075	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs407562	1.00[ASN][1000 genomes]
rs416750	0.95[ASN][1000 genomes]
rs422127	1.00[ASN][1000 genomes]
rs434039	1.00[ASN][1000 genomes]
rs4343864	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs443726	1.00[ASN][1000 genomes]
rs447044	0.95[ASN][1000 genomes]
rs449204	1.00[ASN][1000 genomes]
rs451141	1.00[ASN][1000 genomes]
rs4565239	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs4583911	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45931	1.00[ASN][1000 genomes]
rs467728	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs469519	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4703049	0.95[ASN][1000 genomes]
rs4703052	0.83[ASN][1000 genomes]
rs4703340	0.83[ASN][1000 genomes]
rs4703345	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs539024	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs559574	1.00[ASN][1000 genomes]
rs6878136	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs709386	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs709387	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs709388	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs709389	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs709390	0.95[ASN][1000 genomes]
rs7449447	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7710032	0.95[ASN][1000 genomes]
rs7711061	0.95[ASN][1000 genomes]
rs7712408	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7719562	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7719649	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7723242	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs819227	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs819230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs819231	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs819232	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826071	chr5:98312447-98358852	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1827754	chr5:98312447-98358852	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1837772	chr5:98312447-98358852	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1838335	chr5:98312447-98358852	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1845131	chr5:98312447-98358852	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv4930	chr5:98318768-98350644	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs325195	RGMB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98321400-98322800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:98321400-98322800	Enhancers	K562	blood
3	chr5:98321400-98322800	Enhancers	Monocytes-CD14+_RO01746	blood

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