Variant report

Variant	rs4467826
Chromosome Location	chr7:65368708-65368709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10229450	0.83[EUR][1000 genomes]
rs10279841	0.86[EUR][1000 genomes]
rs10807697	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1167385	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1167386	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11768292	0.80[ASN][1000 genomes]
rs12670952	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13237956	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1631091	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1701751	0.85[EUR][1000 genomes]
rs1701757	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1701760	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1723268	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1723275	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1880556	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1917563	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2008188	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2462573	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2658585	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2658587	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2692056	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2939548	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2946579	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2949690	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2949692	0.85[EUR][1000 genomes]
rs3201569	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34973832	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35135885	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35850374	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502988	0.81[AMR][1000 genomes]
rs4718285	0.81[AMR][1000 genomes]
rs4718288	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55773927	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55796207	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56028712	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62470893	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66552782	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6945322	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954920	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955582	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6960048	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs709604	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs736270	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7383796	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7784623	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7791814	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809991	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs781143	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs781144	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs781145	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs781151	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs781152	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9530	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4467826	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs4467826	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4467826	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4467826	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4467826	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4467826	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4467826	RP4-756H11.3	cis	Thyroid	GTEx
rs4467826	RP4-756H11.3	cis	Artery Aorta	GTEx
rs4467826	RP4-756H11.3	cis	lung	GTEx
rs4467826	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4467826	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4467826	RP4-756H11.3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339200-65372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65339400-65371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:65339600-65370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:65339600-65371600	Weak transcription	Thymus	Thymus
5	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:65339600-65394400	Weak transcription	HMEC	breast
7	chr7:65340000-65370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:65351800-65389200	Weak transcription	Lung	lung
10	chr7:65353000-65371600	Weak transcription	Liver	Liver
11	chr7:65353200-65371200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:65354000-65369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:65357400-65372600	Weak transcription	Brain Angular Gyrus	brain
15	chr7:65357400-65381000	Weak transcription	Primary B cells from cord blood	blood
16	chr7:65357600-65375600	Weak transcription	HSMM	muscle
17	chr7:65358000-65369200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:65358000-65375400	Weak transcription	Fetal Heart	heart
19	chr7:65358200-65369600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
21	chr7:65358400-65374200	Weak transcription	Ovary	ovary
22	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:65364200-65369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:65364400-65371200	Weak transcription	Pancreas	Pancrea
25	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
26	chr7:65364600-65369600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:65364800-65377800	Weak transcription	Osteobl	bone
28	chr7:65364800-65387400	Weak transcription	K562	blood
29	chr7:65365800-65368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:65366000-65371800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:65366200-65370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:65366400-65369400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr7:65366400-65371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:65367400-65371600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:65367400-65377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:65367400-65378200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:65367600-65369400	Weak transcription	A549	lung
40	chr7:65367600-65371600	Weak transcription	HepG2	liver
41	chr7:65367600-65372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:65367600-65373800	Weak transcription	NHDF-Ad	bronchial
43	chr7:65367600-65376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:65367600-65388200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:65367800-65368800	Weak transcription	Dnd41	blood
46	chr7:65367800-65369400	Weak transcription	Fetal Intestine Large	intestine
47	chr7:65367800-65369600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:65368200-65368800	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr7:65368200-65369400	Weak transcription	NHEK	skin

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