Variant report

Variant	rs7575011
Chromosome Location	chr2:114432890-114432891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10195296	0.97[ASN][1000 genomes]
rs10206734	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123205	0.92[ASN][1000 genomes]
rs11887753	0.92[ASN][1000 genomes]
rs12620183	1.00[YRI][hapmap]
rs13019731	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28752192	0.94[ASN][1000 genomes]
rs4849258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56754600	0.97[ASN][1000 genomes]
rs58877583	0.94[ASN][1000 genomes]
rs6542170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744051	0.97[ASN][1000 genomes]
rs6744257	0.97[ASN][1000 genomes]
rs67744986	0.97[ASN][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	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7575011	RABL2A	cis	Thyroid	GTEx
rs7575011	AC017074.2	cis	Skin Sun Exposed Lower leg	GTEx
rs7575011	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:114429400-114434800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:114429800-114433000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:114432200-114433200	Weak transcription	K562	blood
5	chr2:114432800-114433000	Enhancers	Left Ventricle	heart
6	chr2:114432800-114433000	Enhancers	Right Atrium	heart
7	chr2:114432800-114434600	Enhancers	Spleen	Spleen

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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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