Variant report

Variant	rs9875752
Chromosome Location	chr3:150113738-150113739
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150108916..150110549-chr3:150112445..150115042,2	MCF-7	breast:
2	chr3:150103102..150105201-chr3:150113061..150115315,2	K562	blood:
3	chr3:150113690..150116562-chr3:150119441..150121130,4	K562	blood:
4	chr3:150111999..150114822-chr3:150116151..150119153,3	K562	blood:
5	chr3:150111434..150116692-chr3:150125467..150130603,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

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

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]
rs13317818	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376027	0.89[ASN][1000 genomes]
rs17278131	0.89[ASN][1000 genomes]
rs28571974	0.89[ASN][1000 genomes]
rs28587291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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	0.80[AMR][1000 genomes];0.94[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623100	0.89[ASN][1000 genomes]
rs9827736	0.93[ASN][1000 genomes]
rs9844735	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9879140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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
rs9875752	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	chr3:150107600-150114400	Weak transcription	Fetal Heart	heart
4	chr3:150109200-150124400	Weak transcription	HSMM	muscle
5	chr3:150109200-150124600	Weak transcription	NHLF	lung
6	chr3:150109400-150114400	Weak transcription	HSMMtube	muscle
7	chr3:150109400-150114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:150109600-150114800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:150109600-150116800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:150109600-150121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:150109800-150114600	Weak transcription	HUVEC	blood vessel
12	chr3:150111600-150114200	Weak transcription	Fetal Lung	lung
13	chr3:150112000-150116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:150113000-150114200	Weak transcription	Fetal Intestine Small	intestine
15	chr3:150113200-150114200	Weak transcription	Fetal Intestine Large	intestine
16	chr3:150113200-150114200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:150113200-150116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:150113600-150114800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links