Variant report

Variant	rs10843417
Chromosome Location	chr12:29580127-29580128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1006410	0.80[MEX][hapmap]
rs10743666	0.84[MEX][hapmap]
rs10771529	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771530	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771533	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843416	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843419	0.95[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843423	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12423206	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1836861	0.87[MEX][hapmap]
rs2288128	0.80[MEX][hapmap]
rs3782505	0.80[MEX][hapmap]
rs3782510	0.80[MEX][hapmap]
rs7133304	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7964831	0.80[MEX][hapmap]
rs7965795	0.82[LWK][hapmap]

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	nsv525100	chr12:29576517-29585955	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10843417	IFLTD1	cis	parietal	SCAN
rs10843417	ERGIC2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29571000-29583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29578000-29583200	Enhancers	Hela-S3	cervix
3	chr12:29579000-29581200	Weak transcription	HMEC	breast
4	chr12:29579000-29581400	Weak transcription	NHEK	skin
5	chr12:29579200-29581200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:29579400-29581200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:29579600-29581400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:29579800-29580800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:29579800-29583800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:29580000-29581400	Weak transcription	HUVEC	blood vessel
11	chr12:29580000-29583400	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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