Variant report

Variant	rs2812238
Chromosome Location	chr13:51300278-51300279
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	chr13:51298771..51301176-chr13:51301369..51304366,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1323886	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1853558	0.97[ASN][1000 genomes]
rs1853559	0.97[ASN][1000 genomes]
rs2492345	0.97[ASN][1000 genomes]
rs2540523	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2615123	0.95[ASN][1000 genomes]
rs2706228	0.92[ASN][1000 genomes]
rs2706229	0.93[ASN][1000 genomes]
rs2706234	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706235	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2706239	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2706241	0.97[ASN][1000 genomes]
rs2706242	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2706244	0.97[ASN][1000 genomes]
rs2706245	0.89[ASN][1000 genomes]
rs2761840	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761841	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2761842	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2761843	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs2761844	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2761845	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2761846	0.97[ASN][1000 genomes]
rs2761847	0.87[ASN][1000 genomes]
rs2761849	0.96[ASN][1000 genomes]
rs2761850	0.96[ASN][1000 genomes]
rs2761851	0.96[ASN][1000 genomes]
rs2761852	0.96[ASN][1000 genomes]
rs2761853	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761854	0.97[ASN][1000 genomes]
rs2761855	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796881	0.93[CEU][hapmap]
rs2796882	0.93[CEU][hapmap]
rs2812235	0.97[ASN][1000 genomes]
rs2812237	0.85[EUR][1000 genomes]
rs2812240	0.83[EUR][1000 genomes]
rs2812241	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812242	0.97[ASN][1000 genomes]
rs2812243	1.00[ASN][1000 genomes]
rs2812244	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812246	0.97[ASN][1000 genomes]
rs2812247	0.97[ASN][1000 genomes]
rs2812249	0.96[ASN][1000 genomes]
rs2812250	0.96[ASN][1000 genomes]
rs3118077	0.84[EUR][1000 genomes]
rs7328949	0.82[ASN][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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1037350	chr13:51272518-51447354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv561643	chr13:51286083-51306330	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51290200-51300800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:51295400-51306600	Weak transcription	Esophagus	oesophagus
3	chr13:51296600-51304800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr13:51296600-51306600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:51298400-51303000	Enhancers	Dnd41	blood
6	chr13:51298800-51302000	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:51299400-51306600	Weak transcription	Left Ventricle	heart
8	chr13:51299800-51301400	Enhancers	Primary B cells from cord blood	blood
9	chr13:51299800-51302000	Weak transcription	Thymus	Thymus
10	chr13:51300000-51301800	Weak transcription	Fetal Thymus	thymus

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