Variant report

Variant	rs13431249
Chromosome Location	chr2:72861952-72861953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10084347	0.84[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs10167988	0.88[AFR][1000 genomes]
rs10179254	1.00[MEX][hapmap]
rs10184463	0.88[YRI][hapmap]
rs10186172	0.82[AFR][1000 genomes]
rs10197127	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206245	0.84[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs12105339	0.82[AFR][1000 genomes]
rs13385811	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs13391821	1.00[MEX][hapmap]
rs13397743	1.00[MEX][hapmap]
rs13401801	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419598	1.00[MEX][hapmap]
rs13426691	0.84[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13431249	PRRX1	trans	lymphoblastoid	seeQTL
rs13431249	DSC3	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72840200-72878600	Weak transcription	Aorta	Aorta
2	chr2:72843800-72866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:72845000-72862400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:72847400-72865600	Weak transcription	Right Atrium	heart
5	chr2:72847400-72865800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:72847400-72869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:72854200-72868400	Weak transcription	Fetal Stomach	stomach
8	chr2:72856000-72865600	Weak transcription	Left Ventricle	heart
9	chr2:72857200-72865800	Weak transcription	Fetal Heart	heart
10	chr2:72857400-72865800	Weak transcription	Ovary	ovary
11	chr2:72858400-72904000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search:

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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