Variant report

Variant	rs2118732
Chromosome Location	chr5:79383276-79383277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10462572	0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12109181	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12110039	0.93[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs12186362	0.90[EUR][1000 genomes]
rs12188015	0.90[EUR][1000 genomes]
rs12523107	0.92[EUR][1000 genomes]
rs12523112	0.90[EUR][1000 genomes]
rs17882279	0.91[EUR][1000 genomes]
rs62363982	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6453500	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453501	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6891246	0.85[EUR][1000 genomes]
rs6897999	0.93[CEU][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs7707343	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7725944	0.84[EUR][1000 genomes]
rs7736549	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2118732	FAM193A	trans	cerebellum	SCAN
rs2118732	IQGAP2	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79366000-79388000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:79366200-79385000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:79366200-79392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:79378200-79385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:79379400-79388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:79379400-79393200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:79379400-79400600	Weak transcription	Left Ventricle	heart
8	chr5:79379600-79387400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:79379600-79387600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:79379600-79387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:79379600-79387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:79379600-79388000	Weak transcription	Primary T cells from cord blood	blood
13	chr5:79382000-79393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:79382200-79385000	Weak transcription	HepG2	liver
15	chr5:79382200-79387800	Weak transcription	Brain Anterior Caudate	brain
16	chr5:79382400-79385000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:79382400-79386800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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