Variant report

Variant	rs34010717
Chromosome Location	chr1:184082133-184082134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1034477	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797941	1.00[ASN][1000 genomes]
rs10911511	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11576332	0.88[ASN][1000 genomes]
rs11582961	0.88[ASN][1000 genomes]
rs11585756	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086203	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402790	0.88[ASN][1000 genomes]
rs12403064	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12408961	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12411231	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12725276	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729638	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734950	0.88[ASN][1000 genomes]
rs12751711	0.88[ASN][1000 genomes]
rs12759837	0.83[ASN][1000 genomes]
rs1409812	0.88[ASN][1000 genomes]
rs16822379	0.88[ASN][1000 genomes]
rs1926873	0.88[ASN][1000 genomes]
rs1991170	1.00[ASN][1000 genomes]
rs34876045	0.88[ASN][1000 genomes]
rs35178058	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514700	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35947721	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650654	1.00[ASN][1000 genomes]
rs56239295	0.88[ASN][1000 genomes]
rs58322431	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61477737	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68130131	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053551	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765224	0.88[ASN][1000 genomes]
rs765225	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34010717	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184065600-184093000	Weak transcription	Aorta	Aorta
2	chr1:184077200-184082400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:184079800-184085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:184080400-184085400	Weak transcription	Spleen	Spleen
5	chr1:184080800-184084400	Enhancers	GM12878-XiMat	blood
6	chr1:184080800-184085400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:184080800-184090800	Weak transcription	Gastric	stomach
8	chr1:184081600-184083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:184081800-184082200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:184081800-184082600	Enhancers	HMEC	breast
11	chr1:184081800-184082600	Enhancers	NHEK	skin
12	chr1:184081800-184083400	Enhancers	HSMMtube	muscle
13	chr1:184082000-184082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:184082000-184083400	Enhancers	Fetal Muscle Leg	muscle

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