Variant report

Variant	rs17044697
Chromosome Location	chr2:116316515-116316516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1006341	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10205952	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1037203	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1037204	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13002945	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13003256	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13007729	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13014914	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1375153	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17044588	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17044593	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17044687	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17044776	0.83[EUR][1000 genomes]
rs1868327	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2008495	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2008948	0.81[ASN][1000 genomes]
rs2121999	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166906	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34140834	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35366253	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4241134	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4241135	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4536655	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4538209	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4849406	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4849407	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4849408	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4849413	0.90[EUR][1000 genomes]
rs55697033	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55913162	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67025581	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67307325	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7419743	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7421696	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7602082	0.81[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	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17044697	CHCHD5	cis	parietal	SCAN
rs17044697	SLC20A1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116315400-116316800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:116315600-116316800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:116315600-116317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:116315800-116317000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:116315800-116318400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:116316000-116317600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:116316000-116318400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:116316200-116316800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:116316400-116317000	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links