Variant report

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs16822926	1.00[AMR][1000 genomes]
rs16853277	1.00[AMR][1000 genomes]
rs16853299	1.00[AMR][1000 genomes]
rs16853329	1.00[AMR][1000 genomes]
rs16853380	1.00[AMR][1000 genomes]
rs16853465	1.00[AMR][1000 genomes]
rs16853502	1.00[AMR][1000 genomes]
rs16853534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853546	1.00[AMR][1000 genomes]
rs16853548	1.00[ASN][1000 genomes]
rs16853549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853556	1.00[ASN][1000 genomes]
rs16853560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16853568	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35951823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017772	1.00[AMR][1000 genomes]
rs73021707	1.00[ASN][1000 genomes]
rs73021722	1.00[ASN][1000 genomes]
rs73021724	1.00[ASN][1000 genomes]
rs73021736	1.00[ASN][1000 genomes]
rs73021738	1.00[ASN][1000 genomes]
rs73021753	1.00[ASN][1000 genomes]
rs73021757	1.00[ASN][1000 genomes]
rs73023863	0.87[ASN][1000 genomes]
rs73023865	0.87[ASN][1000 genomes]
rs73023866	0.87[ASN][1000 genomes]
rs73023867	0.87[ASN][1000 genomes]
rs73023869	0.87[ASN][1000 genomes]
rs73023873	0.87[ASN][1000 genomes]
rs73023883	0.87[ASN][1000 genomes]
rs7556808	1.00[AMR][1000 genomes]
rs7582667	1.00[AMR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168238000-168247800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:168242200-168255200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:168245000-168247800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:168245400-168252400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:168245800-168251200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:168245800-168251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:168246000-168247600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:168246200-168259000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:168246400-168251200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:168246600-168247600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:168246800-168247600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:168246800-168263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:168247000-168247200	Enhancers	Psoas Muscle	Psoas

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