Variant report

Variant	rs6681849
Chromosome Location	chr1:94874521-94874522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10399785	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10399820	0.89[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11165135	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1765652	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs4477285	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][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	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6681849	ABCD3	cis	Liver	GTEx
rs6681849	EPHX4	cis	cerebellum	SCAN
rs6681849	AK024564	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94861600-94876000	Weak transcription	Thymus	Thymus
2	chr1:94861600-94882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:94873400-94874600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:94874000-94874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:94874000-94882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:94874000-94882800	Weak transcription	Fetal Brain Male	brain
7	chr1:94874400-94874600	Enhancers	Fetal Kidney	kidney
8	chr1:94874400-94875600	Weak transcription	A549	lung

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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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