Variant report

Variant	rs4849406
Chromosome Location	chr2:116301591-116301592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1006341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10205952	0.83[AMR][1000 genomes]
rs1037203	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1037204	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10496496	0.84[ASN][1000 genomes]
rs10496497	0.85[ASN][1000 genomes]
rs13002945	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13003256	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13007729	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13014914	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13027502	0.82[ASN][1000 genomes]
rs1375153	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1517367	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1584400	0.85[ASN][1000 genomes]
rs1584401	0.85[ASN][1000 genomes]
rs1584403	0.85[ASN][1000 genomes]
rs17044588	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17044593	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17044687	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17044697	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1868327	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008495	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2008948	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2121999	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2166906	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421104	0.84[ASN][1000 genomes]
rs34140834	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34884623	0.84[ASN][1000 genomes]
rs35366253	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35511048	0.85[ASN][1000 genomes]
rs4241134	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241135	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4313982	0.84[ASN][1000 genomes]
rs4536655	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4538209	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849399	0.85[ASN][1000 genomes]
rs4849400	0.85[ASN][1000 genomes]
rs4849407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55697033	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55913162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67025581	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67307325	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67984587	0.85[ASN][1000 genomes]
rs7421696	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs950586	0.85[CHB][hapmap];0.95[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	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
2	esv2762794	chr2:116295853-116306108	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4849406	CHCHD5	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116298800-116301600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:116299000-116301600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:116299200-116302600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:116299400-116301600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:116299400-116302200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:116299600-116301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:116299600-116302400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:116300000-116302200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:116301200-116302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:116301400-116310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:116301400-116315800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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