Variant report

Variant	rs9323497
Chromosome Location	chr14:67873128-67873129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67869356..67872173-chr14:67872703..67875078,2	K562	blood:
2	chr14:67855990..67858620-chr14:67871680..67873516,2	MCF-7	breast:
3	chr14:67872379..67874314-chr14:67877816..67879918,2	K562	blood:

Variant related genes	Relation type
ENSG00000100558	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1006595	0.82[CHB][hapmap]
rs10132093	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10141180	0.91[CHD][hapmap]
rs10144122	0.82[ASN][1000 genomes]
rs12588292	0.91[CHD][hapmap]
rs12588458	0.86[CHD][hapmap];0.93[GIH][hapmap];0.80[AMR][1000 genomes]
rs17248895	0.86[JPT][hapmap]
rs1885590	0.89[CHD][hapmap]
rs2031564	0.82[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap]
rs2094162	0.89[CHD][hapmap]
rs2148160	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2296561	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2319777	0.88[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap]
rs3784085	0.91[CHD][hapmap]
rs4143909	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4636843	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs57154550	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6573760	0.82[ASW][hapmap];0.81[GIH][hapmap]
rs6573765	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6573769	0.88[CHD][hapmap]
rs6573770	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7153725	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs7154607	0.93[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap]
rs8003327	0.82[ASN][1000 genomes]
rs8004267	0.82[JPT][hapmap]
rs8005876	0.93[CHD][hapmap];0.86[JPT][hapmap]
rs8006042	0.86[CHD][hapmap]
rs8013280	0.90[TSI][hapmap]
rs8015819	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs8015950	0.86[JPT][hapmap]
rs8016024	0.89[CHD][hapmap]
rs8020262	0.86[JPT][hapmap]
rs8020850	0.84[CHD][hapmap]
rs8021730	0.86[JPT][hapmap]
rs9323498	0.90[TSI][hapmap]
rs9743912	0.89[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9323497	ATP6V1D	cis	Thyroid	GTEx
rs9323497	EIF2S1	cis	brain	seeQTL
rs9323497	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs9323497	EIF2S1	cis	lymphoblastoid	seeQTL
rs9323497	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:18 , 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	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
5	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:67864800-67876200	Weak transcription	Hela-S3	cervix
11	chr14:67865200-67875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:67867000-67876200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:67869200-67873400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:67872000-67874400	Strong transcription	NHEK	skin
15	chr14:67872000-67876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:67872200-67876200	Strong transcription	Fetal Intestine Small	intestine
17	chr14:67872600-67873600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:67872600-67873600	Weak transcription	HMEC	breast

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