Variant report

Variant	rs61959917
Chromosome Location	chr13:50237602-50237603
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11839475	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12428286	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407439	0.82[ASN][1000 genomes]
rs2273817	0.82[ASN][1000 genomes]
rs35150514	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35526541	0.82[ASN][1000 genomes]
rs56006419	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959916	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959930	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959931	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959935	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61959938	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321073	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321709	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332209	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734223	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748678	0.88[ASN][1000 genomes]
rs9535314	0.82[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61959917	EBPL	cis	Esophagus Mucosa	GTEx

Chromatin state (count:114 , 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	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
3	chr13:50217800-50241000	Weak transcription	K562	blood
4	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel
6	chr13:50224600-50243000	Weak transcription	Brain Germinal Matrix	brain
7	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:50226400-50244000	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:50226800-50241200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:50227000-50240000	Weak transcription	Adipose Nuclei	Adipose
11	chr13:50227000-50241200	Weak transcription	GM12878-XiMat	blood
12	chr13:50227400-50253200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:50227800-50240000	Weak transcription	Left Ventricle	heart
14	chr13:50227800-50241000	Weak transcription	Fetal Brain Male	brain
15	chr13:50228400-50241200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:50228600-50242000	Weak transcription	HSMMtube	muscle
17	chr13:50228600-50244000	Weak transcription	Fetal Kidney	kidney
18	chr13:50229600-50239800	Weak transcription	Thymus	Thymus
19	chr13:50229800-50243400	Weak transcription	Small Intestine	intestine
20	chr13:50230000-50239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:50230000-50240000	Weak transcription	Colonic Mucosa	Colon
22	chr13:50230000-50241000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:50230200-50241200	Weak transcription	HMEC	breast
24	chr13:50230200-50242000	Weak transcription	NHDF-Ad	bronchial
25	chr13:50230400-50239600	Weak transcription	HSMM	muscle
26	chr13:50230400-50243400	Strong transcription	Fetal Stomach	stomach
27	chr13:50230600-50238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:50230600-50239800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:50230600-50241200	Weak transcription	Fetal Brain Female	brain
30	chr13:50231000-50237800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:50231000-50241000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:50231000-50246800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:50231200-50241000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:50231200-50241800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:50231400-50241800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:50231400-50243000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:50231600-50239800	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:50231800-50240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:50231800-50241800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:50231800-50256000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:50232000-50239800	Weak transcription	Hela-S3	cervix
42	chr13:50232200-50242400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:50232800-50239800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr13:50232800-50240000	Weak transcription	Esophagus	oesophagus
45	chr13:50232800-50241800	Weak transcription	Brain Substantia Nigra	brain
46	chr13:50233000-50237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:50233000-50242600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50233200-50237800	Strong transcription	Primary T cells from cord blood	blood
49	chr13:50233200-50241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr13:50233400-50241400	Weak transcription	Monocytes-CD14+_RO01746	blood

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