Variant report

Variant	rs56325957
Chromosome Location	chr2:50189420-50189421
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12621581	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1363046	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1421586	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421594	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17039529	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17039564	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17039573	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039575	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17039577	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17039582	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17439140	0.81[EUR][1000 genomes]
rs2193868	0.80[EUR][1000 genomes]
rs2351145	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59672611	0.83[EUR][1000 genomes]
rs59973985	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6713560	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6713940	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs725323	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7573698	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7574241	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9679140	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs983094	0.82[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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932839	chr2:50181785-50225697	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 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	chr2:50187400-50189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:50187600-50199800	Weak transcription	Fetal Brain Female	brain
3	chr2:50188000-50198200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:50188600-50199400	Weak transcription	Fetal Brain Male	brain
5	chr2:50188600-50199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:50189000-50190400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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