Variant report

Variant	rs4802137
Chromosome Location	chr19:38355209-38355210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10406856	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418133	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421572	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422056	0.91[CHB][hapmap]
rs10426553	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10426712	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11083439	0.91[CHB][hapmap]
rs11668434	0.90[CHB][hapmap]
rs11668558	0.90[CHB][hapmap]
rs11672077	1.00[CHB][hapmap]
rs1643470	0.90[CHB][hapmap]
rs17306508	0.90[CHB][hapmap]
rs17306795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2160640	0.90[CHB][hapmap]
rs2382622	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs241937	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs241940	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs241941	0.91[CHB][hapmap]
rs241942	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs241948	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs241951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35462777	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3752365	0.91[CHB][hapmap]
rs3894129	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs4482404	0.90[CHB][hapmap]
rs4802132	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802133	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802134	0.91[CHB][hapmap]
rs55970469	0.83[ASN][1000 genomes]
rs56851463	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57268445	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6508747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508750	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs697433	0.90[CHB][hapmap]
rs7245957	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7253870	0.95[AFR][1000 genomes]
rs7254828	0.90[CHB][hapmap]
rs8100684	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101131	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8111400	0.91[CHB][hapmap]
rs833916	0.81[CHB][hapmap]
rs856302	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs861308	0.81[CHB][hapmap]
rs953370	1.00[CEU][hapmap];0.97[LWK][hapmap];0.95[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1062040	chr19:38294465-38370456	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1832898	chr19:38341754-38362792	Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1825275	chr19:38341754-38376485	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv960836	chr19:38355208-38370306	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4802137	AC012309.5	cis	Thyroid	GTEx
rs4802137	AC012309.5	cis	Artery Tibial	GTEx
rs4802137	AC012309.5	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38347400-38356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:38347400-38358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:38350600-38356800	Enhancers	Fetal Brain Male	brain
4	chr19:38353600-38355400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:38353600-38355600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38353600-38355800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:38355200-38356800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr19:38355200-38359000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links