Variant report

Variant	rs2819504
Chromosome Location	chr1:227709370-227709371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1495844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1495854	1.00[AMR][1000 genomes]
rs1587156	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1817929	0.84[AFR][1000 genomes]
rs1988973	1.00[AMR][1000 genomes]
rs2029838	0.92[LWK][hapmap]
rs2246657	1.00[AMR][1000 genomes]
rs2453681	0.92[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644142	0.84[AFR][1000 genomes]
rs2644148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644155	1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814062	0.84[AFR][1000 genomes]
rs2814063	0.84[AFR][1000 genomes]
rs2814065	0.92[LWK][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814076	1.00[AMR][1000 genomes]
rs2814083	1.00[AMR][1000 genomes]
rs2819495	0.86[LWK][hapmap];0.84[AFR][1000 genomes]
rs2819497	0.84[AFR][1000 genomes]
rs2819499	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819505	0.92[LWK][hapmap];1.00[YRI][hapmap]
rs2935150	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2999749	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745453	1.00[AMR][1000 genomes]
rs903688	1.00[AMR][1000 genomes]
rs903696	0.86[LWK][hapmap];0.84[AFR][1000 genomes]
rs963297	1.00[AMR][1000 genomes]
rs976960	0.86[LWK][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv945337	chr1:227680551-227712483	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:227709200-227710200	Enhancers	HSMMtube	muscle

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