Variant report

Variant	rs9535303
Chromosome Location	chr13:50281835-50281836
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3809325	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs6561557	0.84[YRI][hapmap]
rs7982132	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9526596	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9526599	0.92[YRI][hapmap]
rs9535308	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9535319	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs9535334	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs9535335	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9535343	0.88[JPT][hapmap]
rs9562919	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs9568313	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9596183	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9596187	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	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	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
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9535303	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs9535303	EBPL	cis	Lymphoblastoid	GTEx
rs9535303	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs9535303	EBPL	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50266200-50282200	Weak transcription	Brain Germinal Matrix	brain
3	chr13:50266200-50285600	Weak transcription	NHLF	lung
4	chr13:50266200-50286000	Weak transcription	Psoas Muscle	Psoas
5	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
8	chr13:50266200-50296000	Weak transcription	K562	blood
9	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:50266200-50307800	Weak transcription	Gastric	stomach
12	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr13:50266400-50289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
15	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
16	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
17	chr13:50267200-50289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:50270400-50286400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:50271400-50284800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:50271400-50286400	Strong transcription	Dnd41	blood
21	chr13:50271400-50286800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:50271600-50284400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
25	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
26	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:50274000-50286600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr13:50274200-50286400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr13:50274200-50286400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:50275200-50284800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:50275400-50286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:50275800-50289200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:50275800-50290000	Weak transcription	Brain Substantia Nigra	brain
34	chr13:50276000-50282200	Weak transcription	Primary T cells from cord blood	blood
35	chr13:50276000-50282600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:50276000-50283200	Weak transcription	Ovary	ovary
37	chr13:50276000-50285000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr13:50276000-50286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:50276000-50288400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr13:50276000-50289600	Weak transcription	Fetal Brain Male	brain
41	chr13:50276000-50289600	Weak transcription	Fetal Brain Female	brain
42	chr13:50276000-50291800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
44	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
45	chr13:50276200-50285000	Weak transcription	HepG2	liver
46	chr13:50276200-50288600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:50276800-50282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:50277000-50282600	Weak transcription	Fetal Lung	lung
49	chr13:50277000-50283600	Weak transcription	GM12878-XiMat	blood
50	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix

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