Variant report

Variant	rs510147
Chromosome Location	chr13:54816326-54816327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1334874	0.89[EUR][1000 genomes]
rs1335976	0.92[EUR][1000 genomes]
rs1335977	0.92[EUR][1000 genomes]
rs1335979	0.86[EUR][1000 genomes]
rs1335980	0.86[EUR][1000 genomes]
rs1577576	0.90[EUR][1000 genomes]
rs1763779	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1932503	0.86[EUR][1000 genomes]
rs2005372	0.86[EUR][1000 genomes]
rs2050534	0.85[EUR][1000 genomes]
rs2050535	0.86[EUR][1000 genomes]
rs2050536	0.86[EUR][1000 genomes]
rs2152503	0.86[EUR][1000 genomes]
rs2184678	0.86[EUR][1000 genomes]
rs2210849	0.82[EUR][1000 genomes]
rs2408992	0.86[EUR][1000 genomes]
rs2408993	0.86[EUR][1000 genomes]
rs2408994	0.86[EUR][1000 genomes]
rs2408995	0.86[EUR][1000 genomes]
rs2576147	1.00[GIH][hapmap];0.94[MEX][hapmap]
rs2782515	0.83[ASN][1000 genomes]
rs2784568	0.94[MEX][hapmap]
rs4274311	0.90[EUR][1000 genomes]
rs4883848	0.86[EUR][1000 genomes]
rs4883850	0.86[EUR][1000 genomes]
rs4884867	0.86[EUR][1000 genomes]
rs5002542	0.86[EUR][1000 genomes]
rs5002543	0.86[EUR][1000 genomes]
rs551408	0.92[EUR][1000 genomes]
rs564930	0.91[EUR][1000 genomes]
rs574623	0.92[EUR][1000 genomes]
rs600930	0.92[EUR][1000 genomes]
rs61956190	0.90[EUR][1000 genomes]
rs653228	0.92[EUR][1000 genomes]
rs6561768	0.92[EUR][1000 genomes]
rs657383	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667408	0.92[EUR][1000 genomes]
rs681704	0.92[EUR][1000 genomes]
rs7326186	0.81[EUR][1000 genomes]
rs7326388	0.86[EUR][1000 genomes]
rs7329766	0.90[EUR][1000 genomes]
rs7335075	0.92[EUR][1000 genomes]
rs7335475	0.86[EUR][1000 genomes]
rs7984593	0.86[EUR][1000 genomes]
rs7985320	0.86[EUR][1000 genomes]
rs7985834	0.87[EUR][1000 genomes]
rs7986212	0.86[EUR][1000 genomes]
rs7991755	0.86[EUR][1000 genomes]
rs7992992	0.90[EUR][1000 genomes]
rs8001182	0.86[EUR][1000 genomes]
rs812128	0.85[ASN][1000 genomes]
rs878943	0.86[EUR][1000 genomes]
rs9527179	0.90[EUR][1000 genomes]
rs9536639	0.86[EUR][1000 genomes]
rs9568990	0.90[EUR][1000 genomes]
rs988526	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1051063	chr13:54777487-54997866	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv541778	chr13:54777487-54997866	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1046376	chr13:54785036-54827801	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2763024	chr13:54786785-54822165	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3693144	chr13:54788842-54816326	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	lncRNA	n/a	inside rSNPs	n/a
8	nsv471132	chr13:54788842-54885744	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54801400-54821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:54807200-54821200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:54815400-54819800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:54815800-54816400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr13:54816000-54816400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:54816200-54816400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:54816200-54821400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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