Variant report

Variant	rs4143909
Chromosome Location	chr14:67887348-67887349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67886247..67889154-chr14:67992283..67994737,2	MCF-7	breast:
2	chr14:67887317..67890062-chr14:68049601..68051878,2	MCF-7	breast:
3	chr14:67886232..67888392-chr14:67891357..67894583,3	MCF-7	breast:
4	chr14:67886608..67887490-chr14:68037726..68038773,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10132093	0.88[JPT][hapmap]
rs10137094	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10141180	0.82[JPT][hapmap]
rs10148070	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17248895	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs2031564	0.86[JPT][hapmap]
rs2148160	0.89[ASN][1000 genomes]
rs2296561	0.86[JPT][hapmap]
rs2319777	0.86[JPT][hapmap]
rs3784085	0.82[JPT][hapmap]
rs4636843	0.82[JPT][hapmap]
rs6573765	0.83[JPT][hapmap]
rs6573770	0.88[ASN][1000 genomes]
rs7153725	0.90[JPT][hapmap]
rs7154607	0.86[JPT][hapmap]
rs8005876	0.90[JPT][hapmap]
rs8015819	0.82[JPT][hapmap]
rs8015950	0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8020262	0.82[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8021730	0.82[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9323497	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9743912	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
8	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4143909	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs4143909	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67879600-67888400	Weak transcription	Fetal Heart	heart
2	chr14:67881400-67892800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:67882400-67887400	Enhancers	Placenta	Placenta
4	chr14:67885000-67887400	Enhancers	Stomach Mucosa	stomach
5	chr14:67886000-67889800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:67886000-67894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:67886200-67891200	Weak transcription	HUVEC	blood vessel
8	chr14:67886200-67893800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:67886200-67894200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:67887000-67888200	Enhancers	K562	blood
11	chr14:67887000-67889400	Weak transcription	Pancreas	Pancrea
12	chr14:67887000-67892400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:67887200-67892400	Weak transcription	NHEK	skin
14	chr14:67887200-67893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:67887200-67893000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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