Variant report

Variant	rs7125285
Chromosome Location	chr11:107925729-107925730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11212474	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11212475	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11600706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600740	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605878	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11607758	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822270	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822651	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825746	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11828176	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617000	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3741053	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3781870	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4565865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58243661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107097	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118335	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130647	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73555359	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73555372	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555391	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557106	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73557122	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557155	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557188	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927717	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929383	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7936826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943669	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7125285	ACAT1	cis	cerebellum	SCAN
rs7125285	GUCY1A2	cis	parietal	SCAN
rs7125285	LAYN	cis	parietal	SCAN
rs7125285	ACAT1	Cis_1M	lymphoblastoid	RTeQTL
rs7125285	NPAT	cis	cerebellum	SCAN
rs7125285	GRIA4	cis	parietal	SCAN
rs7125285	ACAT1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107884400-107926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:107884400-107942000	Weak transcription	Esophagus	oesophagus
3	chr11:107884800-107929200	Weak transcription	NHEK	skin
4	chr11:107890800-107926800	Weak transcription	Hela-S3	cervix
5	chr11:107890800-107975200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:107891000-107965800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:107891200-107966200	Weak transcription	Small Intestine	intestine
8	chr11:107896400-107927400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:107896600-107926600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:107896600-107962000	Weak transcription	Right Ventricle	heart
11	chr11:107901600-107933800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:107902600-107974400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:107903000-107927800	Weak transcription	Fetal Brain Male	brain
14	chr11:107903400-107935200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:107903600-107957600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:107903800-107938000	Strong transcription	Dnd41	blood
17	chr11:107904400-107933800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:107905400-107925800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:107906000-107934600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:107906600-107927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:107906800-107942000	Weak transcription	Aorta	Aorta
22	chr11:107906800-107945600	Weak transcription	Spleen	Spleen
23	chr11:107906800-107947000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:107907200-107933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:107908200-107926600	Weak transcription	Psoas Muscle	Psoas
26	chr11:107908200-107964000	Weak transcription	Fetal Heart	heart
27	chr11:107908400-107980600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:107908600-107929400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:107908600-107940800	Weak transcription	A549	lung
30	chr11:107908800-107927200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:107908800-107939600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:107909200-107941000	Weak transcription	NHLF	lung
33	chr11:107914000-107926600	Weak transcription	Colonic Mucosa	Colon
34	chr11:107914800-107937800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:107914800-107955800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr11:107916000-107930200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:107916000-107933800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:107916000-107938200	Strong transcription	Adipose Nuclei	Adipose
39	chr11:107916200-107935000	Strong transcription	Liver	Liver
40	chr11:107916200-107938600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:107916400-107934800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:107917000-107940200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:107917800-107937600	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:107918000-107926000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:107918000-107926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:107918200-107926800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:107918200-107942000	Weak transcription	Gastric	stomach
48	chr11:107918200-107946200	Weak transcription	Pancreas	Pancrea
49	chr11:107919400-107926600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:107919400-107926800	Weak transcription	HSMMtube	muscle

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