Variant report

Variant	rs2148160
Chromosome Location	chr14:67868113-67868114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10132093	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10139953	0.82[ASN][1000 genomes]
rs10144122	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10147362	0.81[EUR][1000 genomes]
rs10149615	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1044745	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12588458	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2031564	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2296561	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296562	0.82[ASN][1000 genomes]
rs2296563	0.81[ASN][1000 genomes]
rs2319777	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3784085	0.80[ASN][1000 genomes]
rs4143909	0.89[ASN][1000 genomes]
rs60505324	0.83[AMR][1000 genomes]
rs6573768	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573770	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7153725	0.82[ASN][1000 genomes]
rs7154607	0.81[ASN][1000 genomes]
rs7157704	0.82[ASN][1000 genomes]
rs73284892	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8003327	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8005756	0.81[ASN][1000 genomes]
rs8005876	0.81[ASN][1000 genomes]
rs8007696	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8015819	0.82[ASN][1000 genomes]
rs9323497	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]

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	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2148160	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
2	chr14:67850200-67878400	Weak transcription	Lung	lung
3	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
4	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
6	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:67863600-67868200	Weak transcription	Fetal Intestine Large	intestine
12	chr14:67864400-67870200	Weak transcription	Fetal Stomach	stomach
13	chr14:67864600-67872200	Weak transcription	Fetal Intestine Small	intestine
14	chr14:67864800-67876200	Weak transcription	Hela-S3	cervix
15	chr14:67865200-67875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:67865800-67870800	Weak transcription	HMEC	breast
17	chr14:67867000-67876200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:67867200-67869200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:67867400-67869800	Weak transcription	NHEK	skin
20	chr14:67867400-67870400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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