Variant report

Variant	rs11858141
Chromosome Location	chr15:40389683-40389684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40379925..40381610-chr15:40389500..40391529,2	MCF-7	breast:
2	chr15:40388598..40390113-chr15:40390447..40392056,2	K562	blood:
3	chr15:40389103..40392679-chr15:40452401..40455332,4	K562	blood:
4	chr15:39872166..39874631-chr15:40388813..40390537,2	MCF-7	breast:
5	chr15:40389070..40391081-chr15:40419316..40421072,2	K562	blood:
6	chr15:40357794..40362220-chr15:40389488..40392528,3	MCF-7	breast:
7	chr15:40372039..40375867-chr15:40386826..40392262,4	K562	blood:
8	chr15:40336782..40338579-chr15:40387773..40390430,2	MCF-7	breast:
9	chr15:40388597..40390833-chr15:40440085..40442294,2	K562	blood:
10	chr15:40384830..40387803-chr15:40388131..40391380,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259409	Chromatin interaction
ENSG00000137801	Chromatin interaction
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12148376	0.87[ASN][1000 genomes]
rs2934776	0.94[CHD][hapmap];0.82[JPT][hapmap]
rs3759838	0.82[JPT][hapmap]
rs511338	0.93[EUR][1000 genomes]
rs534838	0.82[JPT][hapmap]
rs631665	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11858141	RPUSD2	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40381000-40390200	Genic enhancers	Fetal Stomach	stomach
2	chr15:40381800-40390200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:40383400-40394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:40383600-40390400	Genic enhancers	Fetal Thymus	thymus
5	chr15:40383600-40390800	Genic enhancers	Fetal Intestine Small	intestine
6	chr15:40384000-40389800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr15:40384000-40389800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:40384000-40390600	Enhancers	Primary B cells from cord blood	blood
9	chr15:40384200-40390000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:40384200-40392400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:40384800-40389800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:40385000-40390600	Weak transcription	Fetal Brain Female	brain
13	chr15:40385200-40390400	Enhancers	Primary T cells from cord blood	blood
14	chr15:40385400-40390000	Weak transcription	Osteobl	bone
15	chr15:40385400-40390200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:40385600-40389800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:40385600-40389800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:40385600-40390000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:40385600-40390200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:40385600-40390600	Weak transcription	Fetal Brain Male	brain
21	chr15:40385800-40390000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:40385800-40390000	Enhancers	Stomach Smooth Muscle	stomach
23	chr15:40385800-40390200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:40386000-40390000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:40386000-40390400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:40386000-40390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:40386200-40389800	Weak transcription	HSMM	muscle
28	chr15:40386200-40390000	Enhancers	HepG2	liver
29	chr15:40386600-40390400	Genic enhancers	Thymus	Thymus
30	chr15:40386800-40390000	Weak transcription	Esophagus	oesophagus
31	chr15:40386800-40390200	Enhancers	Rectal Smooth Muscle	rectum
32	chr15:40387000-40389800	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:40387200-40389800	Enhancers	Adipose Nuclei	Adipose
34	chr15:40387200-40390000	Enhancers	K562	blood
35	chr15:40387200-40392800	Enhancers	Fetal Intestine Large	intestine
36	chr15:40387200-40395600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:40387200-40397800	Enhancers	Fetal Muscle Leg	muscle
38	chr15:40387400-40390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:40387400-40390800	Enhancers	Primary B cells from peripheral blood	blood
40	chr15:40387400-40395200	Enhancers	NHLF	lung
41	chr15:40387600-40389800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:40387600-40390400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:40387600-40390400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr15:40387600-40391400	Enhancers	Psoas Muscle	Psoas
45	chr15:40387600-40395200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:40387600-40397200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr15:40387800-40390600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:40387800-40390800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:40387800-40391000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:40388000-40390000	Enhancers	Colon Smooth Muscle	Colon

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