Variant report

Variant	rs2236217
Chromosome Location	chr1:57430805-57430806
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2236216	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706484	0.88[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2236217	C8B	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57425400-57431400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57428600-57434400	Active TSS	Liver	Liver
3	chr1:57430200-57431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57430200-57431200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:57430600-57431000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:57430600-57431600	Enhancers	Pancreas	Pancrea
7	chr1:57430800-57431000	Flanking Active TSS	HepG2	liver
8	chr1:57430800-57431800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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