Variant report

Variant	rs4703049
Chromosome Location	chr5:98340383-98340384
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	chr5:98334839..98337187-chr5:98340371..98342752,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10037147	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10038192	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10040066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041261	0.85[ASN][1000 genomes]
rs10050423	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10076291	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10477857	1.00[ASN][1000 genomes]
rs10479344	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10479345	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10479346	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10479348	0.87[ASN][1000 genomes]
rs1093794	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1104262	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11242567	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11242579	0.90[JPT][hapmap]
rs11949103	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11950452	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11950855	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11960896	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12109067	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12189335	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13155749	0.81[EUR][1000 genomes]
rs13179812	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1393210	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1472622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1501911	0.81[EUR][1000 genomes]
rs150992	0.84[MEX][hapmap]
rs151102	1.00[CHB][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs161729	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs161730	0.95[ASN][1000 genomes]
rs161731	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs161732	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs161935	0.96[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs161936	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs161938	0.81[GIH][hapmap]
rs161941	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs161948	0.81[AMR][1000 genomes]
rs161954	0.81[CEU][hapmap]
rs162140	0.81[CEU][hapmap]
rs162149	0.81[CEU][hapmap]
rs162150	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs162337	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs162341	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs167798	0.95[ASN][1000 genomes]
rs172874	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1875529	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap]
rs2221268	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[ASN][1000 genomes]
rs2455423	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2927647	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2927648	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2927654	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2937706	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2937708	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2937709	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs325195	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs325220	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs326468	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs326480	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs326481	1.00[CHB][hapmap]
rs326482	1.00[CHB][hapmap]
rs326493	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs327807	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs327811	0.84[MEX][hapmap]
rs330421	0.81[CEU][hapmap]
rs34488	0.95[ASN][1000 genomes]
rs34489	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34490	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34491	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34496	0.96[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34497	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34498	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs34499	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs363929	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366000	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs366353	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370529	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs377731	0.81[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs378089	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs380156	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs393697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs395668	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs398436	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40075	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs407562	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs416750	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422127	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs428836	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs434039	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs443726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4448016	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs447044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449204	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs451141	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583911	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap]
rs45931	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs467728	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs469018	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4703048	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4703051	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4703052	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4703340	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4703345	0.85[ASN][1000 genomes]
rs539024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559574	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6865618	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6878136	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs6885458	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs709386	1.00[ASN][1000 genomes]
rs709387	1.00[ASN][1000 genomes]
rs709388	1.00[ASN][1000 genomes]
rs709389	1.00[ASN][1000 genomes]
rs709390	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710032	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711061	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712408	0.80[ASN][1000 genomes]
rs7717324	0.90[JPT][hapmap]
rs7719562	1.00[CHB][hapmap]
rs7723242	0.85[ASN][1000 genomes]
rs819227	1.00[ASN][1000 genomes]
rs819230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs819231	1.00[ASN][1000 genomes]
rs819232	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	esv1791809	chr5:98333129-98346305	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv1797550	chr5:98333129-98346514	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv1847033	chr5:98333129-98346514	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv599090	chr5:98340383-98346514	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98337400-98340800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:98337800-98340600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:98339800-98340800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:98339800-98341000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:98339800-98343600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:98340000-98341000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:98340000-98341600	Enhancers	GM12878-XiMat	blood
8	chr5:98340000-98342000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:98340200-98341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:98340200-98342200	Enhancers	Primary B cells from cord blood	blood

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