Variant report

Variant	rs2997478
Chromosome Location	chr1:224985336-224985337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10495228	0.87[YRI][hapmap]
rs12097622	0.88[EUR][1000 genomes]
rs12565439	1.00[YRI][hapmap]
rs12567091	1.00[YRI][hapmap]
rs1316512	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1361923	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1436166	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16856396	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16856435	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16856463	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16856829	0.85[EUR][1000 genomes]
rs16858661	1.00[YRI][hapmap]
rs16858758	1.00[YRI][hapmap]
rs16858829	1.00[YRI][hapmap]
rs16858831	1.00[YRI][hapmap]
rs16858932	1.00[YRI][hapmap]
rs16858962	1.00[YRI][hapmap]
rs1892121	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1936632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1961688	1.00[YRI][hapmap]
rs2005073	0.87[YRI][hapmap]
rs2016652	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2252950	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2291227	1.00[YRI][hapmap]
rs2298257	0.87[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2501078	0.83[JPT][hapmap]
rs2574874	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2574876	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2574877	0.88[ASN][1000 genomes]
rs2662906	0.83[ASN][1000 genomes]
rs2662907	0.88[ASN][1000 genomes]
rs2662924	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2662925	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2662927	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2662929	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2802552	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2802556	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2802558	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2802559	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2802562	0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2802563	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2802568	0.82[EUR][1000 genomes]
rs2802732	0.82[EUR][1000 genomes]
rs2802733	0.80[EUR][1000 genomes]
rs2802744	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2997501	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3012182	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3012184	0.89[ASN][1000 genomes]
rs4587536	0.85[EUR][1000 genomes]
rs55752315	0.85[EUR][1000 genomes]
rs56237431	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61540517	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524125	chr1:224902054-225021860	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224980600-224988200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224980800-224986600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:224981200-224989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224981400-224988200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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