Variant report

Variant	rs60442699
Chromosome Location	chr2:210182634-210182635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2886336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2886337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35405780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3906906	0.89[AFR][1000 genomes]
rs4324270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4325695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4516362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57198018	0.87[AFR][1000 genomes]
rs57467590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57911442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58076604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58309837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58624046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59241227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59647717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59890393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60119885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60160036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60361077	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60630743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60699845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61431834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61556567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61685350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7423614	0.97[AFR][1000 genomes];1.00[AMR][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	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210172400-210189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:210173000-210195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:210176000-210187800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:210177000-210187800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:210182000-210187400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:210182400-210182800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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