Variant report

Variant	rs334113
Chromosome Location	chr2:179072181-179072182
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs334025	0.89[CHD][hapmap]
rs334108	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334109	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334112	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334113	APLP2	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:179068800-179072400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:179070000-179076400	Weak transcription	Right Atrium	heart
4	chr2:179070200-179075400	Weak transcription	Psoas Muscle	Psoas
5	chr2:179070200-179075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:179070200-179076200	Weak transcription	Brain Angular Gyrus	brain
7	chr2:179070200-179076400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:179070400-179075800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:179070600-179075800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:179070600-179076000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:179070800-179077200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:179071000-179075200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:179071000-179076600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:179071200-179075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:179071400-179078000	Weak transcription	HMEC	breast
16	chr2:179072000-179072200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:179072000-179075800	Weak transcription	K562	blood
18	chr2:179072000-179078000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

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

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