Variant report

Variant	rs9568298
Chromosome Location	chr13:50233692-50233693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1198316	1.00[CHB][hapmap]
rs1923661	1.00[CHB][hapmap]
rs2897769	0.80[ASN][1000 genomes]
rs3903769	1.00[CHB][hapmap]
rs6561564	1.00[CHB][hapmap]
rs716371	1.00[CHB][hapmap]
rs7317456	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7337524	0.82[ASN][1000 genomes]
rs9562920	1.00[CHB][hapmap]
rs9562923	1.00[CHB][hapmap]
rs9562924	1.00[CHB][hapmap]
rs9568314	0.80[ASN][1000 genomes]
rs9568315	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9568319	1.00[CHB][hapmap]
rs9568327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9568328	1.00[CHB][hapmap]
rs957475	1.00[CHB][hapmap]
rs9596178	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9596179	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9596190	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9568298	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9568298	EBPL	cis	Thyroid	GTEx
rs9568298	EBPL	cis	lymphoblastoid	seeQTL
rs9568298	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs9568298	EBPL	cis	Artery Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50217000-50234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
4	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
5	chr13:50217800-50241000	Weak transcription	K562	blood
6	chr13:50220000-50233800	Weak transcription	Dnd41	blood
7	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr13:50220200-50234000	Weak transcription	Fetal Thymus	thymus
10	chr13:50221000-50234000	Weak transcription	Primary B cells from cord blood	blood
11	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:50222800-50236800	Weak transcription	Aorta	Aorta
13	chr13:50223600-50235200	Weak transcription	Pancreas	Pancrea
14	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel
15	chr13:50224400-50235200	Weak transcription	Right Ventricle	heart
16	chr13:50224400-50236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:50224600-50243000	Weak transcription	Brain Germinal Matrix	brain
18	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:50225000-50234000	Weak transcription	NHLF	lung
20	chr13:50226200-50235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr13:50226400-50244000	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:50226800-50235400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr13:50226800-50241200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:50227000-50234000	Weak transcription	NHEK	skin
25	chr13:50227000-50235200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:50227000-50240000	Weak transcription	Adipose Nuclei	Adipose
27	chr13:50227000-50241200	Weak transcription	GM12878-XiMat	blood
28	chr13:50227400-50233800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:50227400-50233800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr13:50227800-50240000	Weak transcription	Left Ventricle	heart
32	chr13:50227800-50241000	Weak transcription	Fetal Brain Male	brain
33	chr13:50228400-50241200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:50228600-50242000	Weak transcription	HSMMtube	muscle
35	chr13:50228600-50244000	Weak transcription	Fetal Kidney	kidney
36	chr13:50229400-50233800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr13:50229400-50237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:50229600-50239800	Weak transcription	Thymus	Thymus
39	chr13:50229800-50243400	Weak transcription	Small Intestine	intestine
40	chr13:50230000-50236800	Weak transcription	Fetal Heart	heart
41	chr13:50230000-50239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr13:50230000-50240000	Weak transcription	Colonic Mucosa	Colon
43	chr13:50230000-50241000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:50230200-50233800	Weak transcription	Ovary	ovary
45	chr13:50230200-50235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:50230200-50236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:50230200-50237000	Weak transcription	A549	lung
48	chr13:50230200-50237200	Weak transcription	Osteobl	bone
49	chr13:50230200-50241200	Weak transcription	HMEC	breast
50	chr13:50230200-50242000	Weak transcription	NHDF-Ad	bronchial

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