Variant report

Variant	rs9576692
Chromosome Location	chr13:39581292-39581293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11147745	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12428445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429338	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12430450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12431316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326405	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17058947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17058990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17059014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2094252	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2094253	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2094254	1.00[ASN][1000 genomes]
rs2104518	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2274384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2274385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34316151	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34327528	1.00[ASN][1000 genomes]
rs35804724	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35864330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4142398	0.85[ASN][1000 genomes]
rs55809136	0.95[ASN][1000 genomes]
rs66496062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66908302	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs67296293	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73169457	1.00[ASN][1000 genomes]
rs7317852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7318688	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs747752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987207	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7994530	0.87[ASN][1000 genomes]
rs7997052	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7998475	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9566385	0.88[ASN][1000 genomes]
rs9566389	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566391	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9566393	0.85[ASN][1000 genomes]
rs9566396	0.85[ASN][1000 genomes]
rs9576669	0.86[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9576670	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576673	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9576674	0.99[ASN][1000 genomes]
rs9576676	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576677	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576678	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576679	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs9576681	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576683	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576684	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9576685	1.00[ASN][1000 genomes]
rs9576686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576688	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576690	0.99[ASN][1000 genomes]
rs9576691	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9576693	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576695	1.00[ASN][1000 genomes]
rs9576696	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9576697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576700	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576701	0.95[ASN][1000 genomes]
rs9576703	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9576705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9576707	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9576710	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs9576711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs9576717	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9576692	C13orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39571600-39583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:39572200-39584600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:39573400-39584800	Weak transcription	K562	blood
4	chr13:39574600-39585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:39577000-39584600	Weak transcription	Left Ventricle	heart
6	chr13:39579000-39585000	Weak transcription	Gastric	stomach
7	chr13:39579600-39581400	Weak transcription	Primary B cells from cord blood	blood
8	chr13:39579600-39582400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:39580000-39581600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:39580000-39582400	Weak transcription	Primary T cells from cord blood	blood
11	chr13:39580000-39584400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:39580000-39584400	Weak transcription	Dnd41	blood
13	chr13:39580200-39581800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:39580200-39581800	Weak transcription	Brain Germinal Matrix	brain
15	chr13:39580200-39582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:39580200-39584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr13:39580200-39584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:39580200-39584600	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:39580200-39584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr13:39580200-39585000	Weak transcription	Fetal Stomach	stomach
21	chr13:39580200-39585000	Weak transcription	NH-A	brain
22	chr13:39580400-39582600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:39580400-39584600	Weak transcription	Fetal Brain Female	brain
24	chr13:39580400-39585000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:39580400-39585000	Weak transcription	Lung	lung
26	chr13:39580600-39581400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:39580600-39582200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:39580600-39582200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr13:39580600-39582200	Weak transcription	Fetal Thymus	thymus
30	chr13:39580600-39583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:39580600-39584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:39580800-39581400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:39580800-39581400	Active TSS	A549	lung
34	chr13:39580800-39581600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr13:39580800-39581600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:39580800-39581800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr13:39580800-39582400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:39580800-39582400	Weak transcription	GM12878-XiMat	blood
39	chr13:39580800-39582400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr13:39580800-39582600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr13:39580800-39583000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:39580800-39583200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:39580800-39584400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr13:39580800-39584400	Weak transcription	Fetal Lung	lung
45	chr13:39580800-39584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr13:39580800-39584800	Weak transcription	Colon Smooth Muscle	Colon
47	chr13:39580800-39586200	Weak transcription	Colonic Mucosa	Colon
48	chr13:39581000-39581400	Enhancers	NHEK	skin
49	chr13:39581000-39581600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr13:39581000-39581600	Enhancers	HepG2	liver

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