Variant report

Variant	rs2689845
Chromosome Location	chr2:168253952-168253953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10198766	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10803825	0.87[EUR][1000 genomes]
rs10930271	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357600	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1357601	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1357604	0.81[ASN][1000 genomes]
rs1357607	1.00[EUR][1000 genomes]
rs1382318	0.84[ASN][1000 genomes]
rs1403891	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1403892	1.00[EUR][1000 genomes]
rs1403893	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1403896	1.00[EUR][1000 genomes]
rs1403898	0.84[ASN][1000 genomes]
rs1403903	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1478385	0.84[ASN][1000 genomes]
rs1523881	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1523885	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1523886	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523889	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880171	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916744	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1916745	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2030655	1.00[EUR][1000 genomes]
rs2030656	1.00[EUR][1000 genomes]
rs2091100	1.00[EUR][1000 genomes]
rs2140498	0.92[ASN][1000 genomes]
rs2140499	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2140500	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2250619	0.84[ASN][1000 genomes]
rs2263240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2617379	1.00[EUR][1000 genomes]
rs2617380	1.00[EUR][1000 genomes]
rs2617381	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689843	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689844	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2689846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689847	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689848	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689849	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689850	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689851	1.00[EUR][1000 genomes]
rs2689853	1.00[EUR][1000 genomes]
rs2689854	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2689855	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2927602	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949009	0.84[ASN][1000 genomes]
rs4130760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4363998	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59534092	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62194917	0.93[ASN][1000 genomes]
rs6704984	1.00[EUR][1000 genomes]
rs6725171	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6729570	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6747382	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756997	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6759323	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6759384	1.00[EUR][1000 genomes]
rs73972270	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73972274	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73972275	0.82[ASN][1000 genomes]
rs7576187	0.84[ASN][1000 genomes]
rs998015	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv431790	chr2:168217873-168273530	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168242200-168255200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:168246200-168259000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168246800-168263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:168251200-168254400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:168251200-168254400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:168251600-168254400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:168252000-168254600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:168252000-168255200	Weak transcription	Psoas Muscle	Psoas
9	chr2:168252200-168254400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:168253000-168254400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:168253600-168254800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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