Variant report

Variant	rs7133304
Chromosome Location	chr12:29598373-29598374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771529	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771530	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10771533	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10843416	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10843417	0.84[EUR][1000 genomes]
rs10843419	0.91[CEU][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843423	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12316665	1.00[LWK][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap]
rs12423206	0.81[EUR][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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv527807	chr12:29597846-29598480	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7133304	IFLTD1	cis	parietal	SCAN
rs7133304	ERGIC2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
6	chr12:29594200-29600600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
8	chr12:29598200-29598400	Enhancers	HSMM	muscle

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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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