Variant report

Variant	rs7231957
Chromosome Location	chr18:25442301-25442302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12966434	0.81[AMR][1000 genomes]
rs17445112	0.86[CEU][hapmap]
rs17467487	0.86[CEU][hapmap];0.85[TSI][hapmap]
rs17467494	0.86[CEU][hapmap]
rs28418921	0.81[AMR][1000 genomes]
rs3924216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4281801	0.81[AMR][1000 genomes]
rs4471777	0.81[AMR][1000 genomes]
rs4528663	0.81[AMR][1000 genomes]
rs4570959	0.81[AMR][1000 genomes]
rs4586537	0.81[AMR][1000 genomes]
rs4800827	0.81[AMR][1000 genomes]
rs4800828	0.81[AMR][1000 genomes]
rs60075950	0.81[AMR][1000 genomes]
rs6508511	0.81[AMR][1000 genomes]
rs7231339	0.81[AMR][1000 genomes]
rs7232124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2760473	chr18:25386088-25571466	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv909478	chr18:25392569-25478085	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv909479	chr18:25398940-25502001	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1055332	chr18:25426081-25459328	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1067550	chr18:25434275-25466837	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv458038	chr18:25437752-25508399	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv576590	chr18:25437752-25508399	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1066584	chr18:25439826-25508399	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv909480	chr18:25440258-25502001	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7231957	CDH2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:25440600-25442400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr18:25440800-25442400	Enhancers	Right Atrium	heart
4	chr18:25441800-25443000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:25441800-25443800	Weak transcription	Left Ventricle	heart
6	chr18:25442200-25442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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