Variant report

Variant	rs13317818
Chromosome Location	chr3:150117100-150117101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150105059..150107937-chr3:150115799..150117722,2	K562	blood:
2	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
3	chr3:150109427..150111930-chr3:150114041..150117161,4	K562	blood:
4	chr3:150108811..150111187-chr3:150116548..150119343,3	MCF-7	breast:
5	chr3:150111999..150114822-chr3:150116151..150119153,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10513368	0.89[ASN][1000 genomes]
rs10513369	0.93[ASN][1000 genomes]
rs10513370	0.93[ASN][1000 genomes]
rs10513371	0.93[ASN][1000 genomes]
rs10513372	0.89[ASN][1000 genomes]
rs10513375	0.89[ASN][1000 genomes]
rs11713072	0.93[ASN][1000 genomes]
rs11928577	0.89[ASN][1000 genomes]
rs11928948	0.89[ASN][1000 genomes]
rs13066114	0.93[ASN][1000 genomes]
rs13067910	0.83[ASN][1000 genomes]
rs13068946	0.93[ASN][1000 genomes]
rs13073230	0.96[ASN][1000 genomes]
rs13076419	0.89[ASN][1000 genomes]
rs1376027	0.89[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	0.89[ASN][1000 genomes]
rs28587291	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2868430	0.93[ASN][1000 genomes]
rs34106738	0.89[ASN][1000 genomes]
rs34156311	0.96[ASN][1000 genomes]
rs34419133	0.89[ASN][1000 genomes]
rs34503712	0.89[ASN][1000 genomes]
rs34647320	0.93[ASN][1000 genomes]
rs34983941	0.89[ASN][1000 genomes]
rs35234277	0.86[ASN][1000 genomes]
rs3749400	0.93[ASN][1000 genomes]
rs3811719	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734437	0.93[ASN][1000 genomes]
rs66816665	0.93[ASN][1000 genomes]
rs67073112	0.93[ASN][1000 genomes]
rs6791546	0.93[ASN][1000 genomes]
rs6799106	0.93[ASN][1000 genomes]
rs6799981	0.93[ASN][1000 genomes]
rs73165716	0.89[ASN][1000 genomes]
rs7614772	0.93[ASN][1000 genomes]
rs7618493	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620193	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621019	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623100	0.89[ASN][1000 genomes]
rs9810244	0.81[EUR][1000 genomes]
rs9827736	0.93[ASN][1000 genomes]
rs9844735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875752	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879140	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13317818	EIF2A	cis	Artery Tibial	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:150109200-150124400	Weak transcription	HSMM	muscle
4	chr3:150109200-150124600	Weak transcription	NHLF	lung
5	chr3:150109600-150121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:150114600-150118600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:150114600-150118800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:150116800-150117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:150116800-150117200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:150116800-150117200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:150116800-150117200	Enhancers	Fetal Muscle Leg	muscle
13	chr3:150116800-150117400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:150117000-150117400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:150117000-150117400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:150117000-150117400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:150117000-150117400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links