Variant report

Variant	rs6888449
Chromosome Location	chr5:42275230-42275231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42272928..42275449-chr5:42292455..42296582,3	K562	blood:
2	chr5:42272928..42275449-chr5:42293817..42296582,2	K562	blood:
3	chr5:42272147..42275776-chr5:42281474..42285473,4	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10037143	0.87[EUR][1000 genomes]
rs10050512	0.99[EUR][1000 genomes]
rs10052738	0.96[CEU][hapmap]
rs10054119	0.94[EUR][1000 genomes]
rs10060873	0.89[EUR][1000 genomes]
rs10064990	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10073423	0.99[EUR][1000 genomes]
rs10078494	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10078980	0.91[ASN][1000 genomes]
rs10079521	0.90[EUR][1000 genomes]
rs10461734	0.89[EUR][1000 genomes]
rs10461735	0.89[EUR][1000 genomes]
rs10461736	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10462034	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1073273	0.87[EUR][1000 genomes]
rs1110874	0.88[EUR][1000 genomes]
rs11954853	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12153093	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12517869	0.87[ASN][1000 genomes]
rs12519296	1.00[JPT][hapmap]
rs12520405	0.94[ASN][1000 genomes]
rs13189999	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354108	0.90[EUR][1000 genomes]
rs1393017	1.00[JPT][hapmap]
rs1393018	1.00[JPT][hapmap]
rs1501513	0.88[EUR][1000 genomes]
rs1501516	0.89[EUR][1000 genomes]
rs1501517	0.89[EUR][1000 genomes]
rs1501518	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1501519	0.89[EUR][1000 genomes]
rs1827329	0.89[EUR][1000 genomes]
rs1827330	0.88[EUR][1000 genomes]
rs1827331	0.89[EUR][1000 genomes]
rs1875430	0.88[EUR][1000 genomes]
rs1876789	0.92[EUR][1000 genomes]
rs1909951	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1995351	0.87[EUR][1000 genomes]
rs2134102	0.87[EUR][1000 genomes]
rs2940927	0.83[CEU][hapmap]
rs34035285	0.83[EUR][1000 genomes]
rs34813199	0.92[EUR][1000 genomes]
rs35005365	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35707555	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3885984	0.99[EUR][1000 genomes]
rs3913458	0.87[EUR][1000 genomes]
rs3913459	0.86[EUR][1000 genomes]
rs4242098	0.99[EUR][1000 genomes]
rs4305644	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4320267	0.97[EUR][1000 genomes]
rs4404722	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4457090	0.97[EUR][1000 genomes]
rs4460174	0.93[EUR][1000 genomes]
rs4489104	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4533937	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4866812	0.94[ASN][1000 genomes]
rs4957203	0.87[EUR][1000 genomes]
rs4957204	0.87[EUR][1000 genomes]
rs58911119	0.87[EUR][1000 genomes]
rs6451592	0.87[EUR][1000 genomes]
rs6451605	0.91[EUR][1000 genomes]
rs6861819	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6872878	0.98[EUR][1000 genomes]
rs6882434	0.99[ASN][1000 genomes]
rs6882555	0.99[ASN][1000 genomes]
rs6887391	0.82[ASN][1000 genomes]
rs6887759	0.82[ASN][1000 genomes]
rs6890248	0.89[EUR][1000 genomes]
rs73091966	1.00[ASN][1000 genomes]
rs73091974	1.00[ASN][1000 genomes]
rs7380353	1.00[ASN][1000 genomes]
rs7380870	0.94[ASN][1000 genomes]
rs7713544	0.87[EUR][1000 genomes]
rs7715104	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7715374	0.97[EUR][1000 genomes]
rs7718368	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs905097	0.88[EUR][1000 genomes]
rs9292843	0.89[EUR][1000 genomes]
rs9292848	0.94[EUR][1000 genomes]
rs9654394	0.94[ASN][1000 genomes]
rs990898	0.87[EUR][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881000	chr5:42254097-42300305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42275000-42275400	Enhancers	HUES6 Cell Line	embryonic stem cell

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