Variant report

Variant	rs1568278
Chromosome Location	chr2:128190195-128190196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1011019	1.00[CHB][hapmap]
rs10177052	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1019842	1.00[ASN][1000 genomes]
rs10496661	1.00[ASN][1000 genomes]
rs10803587	1.00[CHB][hapmap]
rs10803589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11679414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs13030463	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504135	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs17261845	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17261859	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1820969	1.00[ASN][1000 genomes]
rs1864552	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1864554	1.00[ASN][1000 genomes]
rs2052954	1.00[ASN][1000 genomes]
rs2069895	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069902	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069919	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163345	1.00[ASN][1000 genomes]
rs2163348	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2460106	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2679409	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs334137	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334138	1.00[ASN][1000 genomes]
rs334143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334146	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334151	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334152	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334156	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334157	1.00[ASN][1000 genomes]
rs334158	1.00[ASN][1000 genomes]
rs334159	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334160	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3893897	1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs41280570	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4150400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150402	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150499	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150523	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4662713	1.00[ASN][1000 genomes]
rs4662718	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4662719	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs4662736	1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430933	1.00[ASN][1000 genomes]
rs6430936	1.00[ASN][1000 genomes]
rs6430938	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733478	1.00[ASN][1000 genomes]
rs6738690	1.00[ASN][1000 genomes]
rs6756535	1.00[ASN][1000 genomes]
rs72845944	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7556675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7582598	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7607907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9287540	1.00[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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1568278	ERCC3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128181000-128191000	Weak transcription	Aorta	Aorta
2	chr2:128181400-128194000	Weak transcription	Gastric	stomach
3	chr2:128181400-128195200	Weak transcription	Pancreas	Pancrea
4	chr2:128181400-128196000	Weak transcription	Lung	lung
5	chr2:128181400-128209800	Weak transcription	Right Atrium	heart
6	chr2:128181600-128195000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:128181600-128197200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:128183000-128197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:128183800-128190800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:128184200-128190200	Weak transcription	Psoas Muscle	Psoas
11	chr2:128184600-128191400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:128184800-128195200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:128186400-128191000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:128186400-128195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:128186400-128195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:128187200-128191000	Weak transcription	Fetal Stomach	stomach
17	chr2:128189000-128190400	Enhancers	HepG2	liver
18	chr2:128189400-128195200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:128189600-128190200	Enhancers	A549	lung
20	chr2:128190000-128190200	Flanking Active TSS	Liver	Liver

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