Variant report

Variant	rs2254240
Chromosome Location	chr11:47357170-47357171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47348171..47351381-chr11:47356672..47359891,3	MCF-7	breast:
2	chr11:47347273..47351481-chr11:47353649..47359054,5	K562	blood:
3	chr11:47350500..47353711-chr11:47353800..47358007,4	MCF-7	breast:
4	chr11:47355176..47357449-chr11:47361021..47363432,2	K562	blood:
5	chr11:47354148..47357317-chr11:47361021..47366088,5	K562	blood:
6	chr11:47344879..47353948-chr11:47354460..47361122,13	K562	blood:

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1051006	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769253	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769254	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10769255	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10838685	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10838686	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10838687	0.88[AMR][1000 genomes]
rs10838689	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11039155	0.86[EUR][1000 genomes]
rs11039189	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11493249	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11530166	0.85[AMR][1000 genomes]
rs12222581	0.84[AMR][1000 genomes]
rs12574081	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1449626	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2279238	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2290146	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290148	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3729802	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729804	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3729805	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752977	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752978	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752979	0.92[AMR][1000 genomes]
rs4752983	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58023804	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59567949	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6485751	0.92[AMR][1000 genomes]
rs7124958	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753992	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs753993	0.86[AMR][1000 genomes]
rs7928073	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv554209	chr11:47353498-47364127	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2254240	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs2254240	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs2254240	ACP2	cis	Thyroid	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47348000-47358200	Weak transcription	K562	blood
3	chr11:47350800-47357400	Weak transcription	HepG2	liver
4	chr11:47351400-47358800	Weak transcription	Aorta	Aorta
5	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
6	chr11:47351600-47358400	Weak transcription	A549	lung
7	chr11:47351600-47358600	Weak transcription	Hela-S3	cervix
8	chr11:47352400-47364000	Weak transcription	Lung	lung
9	chr11:47352600-47363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47352600-47366000	Weak transcription	Brain Germinal Matrix	brain
11	chr11:47352800-47357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47352800-47361600	Weak transcription	Brain Anterior Caudate	brain
13	chr11:47353000-47357600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:47353000-47360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:47353200-47358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:47353400-47358400	Weak transcription	Placenta	Placenta
17	chr11:47353600-47358000	Weak transcription	Fetal Stomach	stomach
18	chr11:47353600-47362800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:47354000-47360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:47354000-47369800	Weak transcription	Right Atrium	heart
22	chr11:47354200-47358200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:47354200-47361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:47354400-47359200	Strong transcription	Left Ventricle	heart
25	chr11:47354400-47361600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:47354400-47362600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:47354600-47358600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:47354800-47372800	Weak transcription	Gastric	stomach
29	chr11:47355000-47358200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:47355000-47362800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:47355400-47358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:47356000-47358600	Weak transcription	Spleen	Spleen
33	chr11:47356200-47358400	Enhancers	Fetal Heart	heart
34	chr11:47356600-47362000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:47356800-47367200	Strong transcription	Right Ventricle	heart

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