Variant report

Variant	rs1535468
Chromosome Location	chr13:50225830-50225831
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50224881..50227233-chr13:50228850..50231278,2	K562	blood:
2	chr13:50225733..50228016-chr13:50228850..50231289,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12584003	0.94[ASN][1000 genomes]
rs73192659	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74074799	0.93[ASN][1000 genomes]
rs7988114	0.94[ASN][1000 genomes]
rs9562909	0.91[JPT][hapmap]
rs9568300	0.91[JPT][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1535468	ITM2B	cis	cerebellum	SCAN
rs1535468	ITGB1BP3	trans	cerebellum	SCAN
rs1535468	KPNA3	Cis_1M	lymphoblastoid	RTeQTL
rs1535468	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:50216800-50229800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:50217000-50230800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:50217000-50234000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50217000-50236600	Weak transcription	Placenta	Placenta
8	chr13:50217000-50240000	Weak transcription	Spleen	Spleen
9	chr13:50217800-50231000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:50217800-50241000	Weak transcription	K562	blood
11	chr13:50218400-50226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:50220000-50233800	Weak transcription	Dnd41	blood
13	chr13:50220000-50235400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:50220000-50245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr13:50220200-50234000	Weak transcription	Fetal Thymus	thymus
16	chr13:50220400-50230000	Weak transcription	Primary T cells from cord blood	blood
17	chr13:50221000-50234000	Weak transcription	Primary B cells from cord blood	blood
18	chr13:50221600-50236000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:50222800-50236800	Weak transcription	Aorta	Aorta
20	chr13:50223600-50229800	Weak transcription	A549	lung
21	chr13:50223600-50230000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr13:50223600-50235200	Weak transcription	Pancreas	Pancrea
23	chr13:50223800-50226000	Weak transcription	Fetal Heart	heart
24	chr13:50223800-50230400	Weak transcription	Fetal Stomach	stomach
25	chr13:50224000-50226400	Enhancers	Psoas Muscle	Psoas
26	chr13:50224000-50228600	Enhancers	Fetal Muscle Leg	muscle
27	chr13:50224000-50233200	Weak transcription	Fetal Intestine Large	intestine
28	chr13:50224200-50239800	Weak transcription	HUVEC	blood vessel
29	chr13:50224400-50226400	Weak transcription	Lung	lung
30	chr13:50224400-50230000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:50224400-50231400	Weak transcription	Gastric	stomach
32	chr13:50224400-50235200	Weak transcription	Right Ventricle	heart
33	chr13:50224400-50236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:50224600-50226000	Weak transcription	HSMM	muscle
35	chr13:50224600-50229800	Weak transcription	Osteobl	bone
36	chr13:50224600-50230000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:50224600-50243000	Weak transcription	Brain Germinal Matrix	brain
38	chr13:50224600-50252600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:50224800-50226400	Enhancers	Fetal Muscle Trunk	muscle
40	chr13:50225000-50234000	Weak transcription	NHLF	lung
41	chr13:50225200-50226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:50225200-50226800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:50225600-50226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:50225600-50226200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr13:50225600-50226400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr13:50225800-50228600	Enhancers	HSMMtube	muscle
47	chr13:50225800-50229400	Enhancers	Primary hematopoietic stem cells	blood
48	chr13:50225800-50230200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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