Variant report

Variant	rs13011288
Chromosome Location	chr2:48810067-48810068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10495953	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11676150	0.99[ASN][1000 genomes]
rs11678306	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11680574	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11681276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11681426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11683611	0.98[ASN][1000 genomes]
rs11693429	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11693559	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs11693691	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs12475789	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12990079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12992755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12992870	0.82[ASN][1000 genomes]
rs12999304	0.80[ASN][1000 genomes]
rs13010692	0.99[ASN][1000 genomes]
rs13014112	0.84[ASN][1000 genomes]
rs13016899	0.99[ASN][1000 genomes]
rs13025488	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs13027618	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13030948	0.99[ASN][1000 genomes]
rs13031184	0.99[ASN][1000 genomes]
rs13034951	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17037412	1.00[CHB][hapmap]
rs17039250	0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1996970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103112	0.99[ASN][1000 genomes]
rs2177489	0.87[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2293270	0.82[ASN][1000 genomes]
rs2293271	0.82[ASN][1000 genomes]
rs2293272	0.82[ASN][1000 genomes]
rs2293274	0.80[ASN][1000 genomes]
rs2349098	0.87[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2882084	0.98[ASN][1000 genomes]
rs3749142	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3749144	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3749145	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3792234	0.87[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3792235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3792236	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3792237	0.95[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs3792238	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3828340	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4566410	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs55641971	0.99[ASN][1000 genomes]
rs55700200	0.98[ASN][1000 genomes]
rs55858189	0.96[ASN][1000 genomes]
rs56111874	0.98[ASN][1000 genomes]
rs62135230	0.94[ASN][1000 genomes]
rs62135231	0.97[ASN][1000 genomes]
rs62135232	0.99[ASN][1000 genomes]
rs62135233	0.98[ASN][1000 genomes]
rs62135236	0.99[ASN][1000 genomes]
rs6545048	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66888174	0.98[ASN][1000 genomes]
rs6709043	0.90[ASN][1000 genomes]
rs6710565	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712592	0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6712724	1.00[ASN][1000 genomes]
rs6716291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6722556	0.99[ASN][1000 genomes]
rs6727929	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs6729860	0.80[ASN][1000 genomes]
rs6732365	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6741341	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6741677	0.99[ASN][1000 genomes]
rs6742725	0.98[ASN][1000 genomes]
rs6757847	0.99[ASN][1000 genomes]
rs6761796	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940389	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13011288	STON1-GTF2A1L	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48788600-48812000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:48794400-48812000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
5	chr2:48794600-48811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:48795400-48812000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48795400-48814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:48798800-48815600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:48799000-48825800	Weak transcription	HSMMtube	muscle
11	chr2:48800000-48812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:48800400-48811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:48800400-48812600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:48800400-48813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:48800400-48814000	Weak transcription	Lung	lung
16	chr2:48800600-48811600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:48800600-48811800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:48800800-48812800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:48801600-48810200	Weak transcription	Placenta	Placenta
20	chr2:48803400-48812000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:48804600-48824600	Weak transcription	Fetal Intestine Large	intestine
22	chr2:48804800-48816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:48806600-48811800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:48807600-48813600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:48807800-48810200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:48807800-48810600	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:48807800-48812800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr2:48807800-48814200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:48807800-48815200	Strong transcription	Fetal Stomach	stomach
30	chr2:48807800-48815400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:48808000-48810600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:48808000-48813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:48808200-48812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:48808400-48810200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:48808400-48827600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:48808600-48814000	Weak transcription	Psoas Muscle	Psoas
37	chr2:48808600-48821200	Weak transcription	Fetal Kidney	kidney
38	chr2:48808600-48834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:48808800-48821000	Weak transcription	Adipose Nuclei	Adipose
40	chr2:48809000-48810400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:48809000-48821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:48809000-48824400	Weak transcription	Left Ventricle	heart
43	chr2:48809600-48812200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:48809600-48813400	Weak transcription	Fetal Lung	lung
45	chr2:48809600-48814000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:48809600-48814600	Weak transcription	Ovary	ovary
47	chr2:48809600-48821000	Weak transcription	Aorta	Aorta
48	chr2:48809600-48827200	Weak transcription	Right Ventricle	heart
49	chr2:48809800-48810400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:48809800-48810600	Strong transcription	Colon Smooth Muscle	Colon

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