Variant report

Variant	rs685532
Chromosome Location	chr1:210443474-210443475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1342135	0.81[JPT][hapmap]
rs610496	0.89[EUR][1000 genomes]
rs654523	0.80[GIH][hapmap];0.80[JPT][hapmap]
rs845451	0.85[GIH][hapmap];0.80[JPT][hapmap]

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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs685532	NEK2	cis	cerebellum	SCAN
rs685532	PFKFB2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210433800-210445400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:210436400-210445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210438600-210443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:210439000-210443600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:210439000-210445200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:210439600-210444800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:210440200-210445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:210443200-210443800	Enhancers	NH-A	brain
9	chr1:210443400-210444200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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