Variant report

Variant	rs1424548
Chromosome Location	chr7:136709760-136709761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10954569	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11762896	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971309	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11982015	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984039	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424549	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500423	1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs17506733	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506977	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62487067	1.00[ASN][1000 genomes]
rs62487068	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62487070	1.00[ASN][1000 genomes]
rs62487071	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62487072	1.00[ASN][1000 genomes]
rs7779506	1.00[ASN][1000 genomes]
rs7779921	1.00[ASN][1000 genomes]
rs7779999	1.00[ASN][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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3387084	chr7:136709701-136710258	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1424548	ARHGEF3	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136692600-136710600	Weak transcription	NHLF	lung
2	chr7:136700400-136717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:136700600-136710600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136701000-136710400	Weak transcription	Fetal Stomach	stomach
5	chr7:136701000-136712000	Weak transcription	Left Ventricle	heart
6	chr7:136709000-136710200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:136709200-136710600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:136709400-136710400	Weak transcription	Fetal Heart	heart
9	chr7:136709600-136710600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:136709600-136710600	Weak transcription	Ovary	ovary
11	chr7:136709600-136710600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:136709600-136711600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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