Variant report

Variant	rs4438621
Chromosome Location	chr3:139993947-139993948
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	chr3:139985294..139989044-chr3:139992240..139995969,3	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11717522	1.00[JPT][hapmap]
rs11917245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11918688	1.00[EUR][1000 genomes]
rs11924457	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11927090	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13319247	1.00[JPT][hapmap]
rs1383020	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1479866	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1564395	1.00[JPT][hapmap]
rs1564397	1.00[JPT][hapmap]
rs16850133	1.00[EUR][1000 genomes]
rs2061927	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061928	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2061929	1.00[JPT][hapmap]
rs2086330	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34648747	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3943277	1.00[JPT][hapmap]
rs4076964	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4077501	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4142786	1.00[EUR][1000 genomes]
rs4234485	1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263252	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4362682	1.00[JPT][hapmap]
rs4365587	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4371479	1.00[JPT][hapmap]
rs4518083	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4583599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4683484	1.00[JPT][hapmap]
rs4683488	1.00[JPT][hapmap]
rs56834107	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57193140	1.00[EUR][1000 genomes]
rs57446026	0.93[ASN][1000 genomes]
rs57563861	1.00[EUR][1000 genomes]
rs57865055	1.00[EUR][1000 genomes]
rs58140595	1.00[EUR][1000 genomes]
rs59385932	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61015005	1.00[EUR][1000 genomes]
rs62267960	0.80[ASN][1000 genomes]
rs6414345	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6439913	0.87[ASN][1000 genomes]
rs6439914	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6765087	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6773144	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72990191	1.00[EUR][1000 genomes]
rs72990200	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73867103	1.00[EUR][1000 genomes]
rs73867105	1.00[EUR][1000 genomes]
rs73867110	1.00[EUR][1000 genomes]
rs73870712	1.00[EUR][1000 genomes]
rs73870714	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73870715	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7431715	1.00[JPT][hapmap]
rs7610342	0.86[EUR][1000 genomes]
rs7626587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7626588	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635923	0.93[ASN][1000 genomes]
rs7638929	1.00[EUR][1000 genomes]
rs967861	0.82[ASN][1000 genomes]
rs9811609	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9816964	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs9817769	1.00[JPT][hapmap]
rs995578	1.00[JPT][hapmap];1.00[EUR][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	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139980200-139999400	Weak transcription	Pancreas	Pancrea
2	chr3:139992400-139994600	Weak transcription	HSMMtube	muscle
3	chr3:139993000-139995800	Weak transcription	H9 Cell Line	embryonic stem cell

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