Variant report

Variant	rs10508268
Chromosome Location	chr10:3848431-3848432
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:3847592..3850445-chr10:3893287..3894960,2	MCF-7	breast:
2	chr10:3544672..3546393-chr10:3846136..3849063,2	K562	blood:
3	chr10:3847326..3850608-chr10:3890273..3893795,3	K562	blood:
4	chr10:3846003..3848657-chr10:3886879..3889430,2	K562	blood:
5	chr10:3848332..3850077-chr10:3898448..3900637,2	MCF-7	breast:
6	chr10:3848174..3849677-chr10:3873437..3875106,2	MCF-7	breast:
7	chr10:3847634..3849590-chr10:3852996..3855309,2	MCF-7	breast:
8	chr10:3847609..3850397-chr10:3850957..3853100,3	MCF-7	breast:
9	chr10:3846663..3853057-chr10:3891702..3895719,6	MCF-7	breast:
10	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
11	chr10:3843369..3848661-chr10:3868056..3873522,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction
ENSG00000233321	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10508267	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11252113	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11596884	0.81[EUR][1000 genomes]
rs12245875	0.82[CEU][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12248147	0.91[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12268277	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12761012	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17249633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34180227	0.96[EUR][1000 genomes]
rs34414469	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61829729	0.88[ASN][1000 genomes]
rs61829733	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61829734	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043680	chr10:3551191-4038002	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv540450	chr10:3804336-3859639	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv540451	chr10:3804336-3868002	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv540456	chr10:3820854-3868002	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	n/a
5	nsv1045571	chr10:3839308-3874184	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
6	nsv540458	chr10:3839308-3874184	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10508268	FBXO18	cis	cerebellum	SCAN
rs10508268	PFKP	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3843000-3852000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:3844800-3850000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:3844800-3854600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr10:3844800-3854600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr10:3845000-3850600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:3845000-3851200	Enhancers	Fetal Muscle Leg	muscle
7	chr10:3845000-3851200	Enhancers	HepG2	liver
8	chr10:3845000-3854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:3845000-3854600	Enhancers	Primary T cells from cord blood	blood
10	chr10:3845000-3854600	Enhancers	Fetal Thymus	thymus
11	chr10:3845200-3849600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:3845200-3849600	Flanking Active TSS	A549	lung
13	chr10:3845200-3849800	Enhancers	Primary B cells from peripheral blood	blood
14	chr10:3845200-3850200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:3845400-3848600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:3845400-3849200	Weak transcription	Gastric	stomach
17	chr10:3845400-3850800	Weak transcription	Fetal Kidney	kidney
18	chr10:3845400-3850800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:3845400-3853200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:3845600-3850400	Enhancers	Thymus	Thymus
21	chr10:3845800-3849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:3845800-3849800	Enhancers	Brain Hippocampus Middle	brain
23	chr10:3846000-3850400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:3846000-3850800	Enhancers	Fetal Heart	heart
25	chr10:3846200-3852800	Enhancers	NHEK	skin
26	chr10:3846400-3848600	Flanking Active TSS	Dnd41	blood
27	chr10:3846400-3848800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:3846400-3849200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:3846400-3851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:3846400-3851200	Enhancers	Fetal Lung	lung
31	chr10:3846600-3848800	Flanking Active TSS	GM12878-XiMat	blood
32	chr10:3846600-3849200	Enhancers	Brain Anterior Caudate	brain
33	chr10:3846600-3849400	Enhancers	Primary B cells from cord blood	blood
34	chr10:3846600-3852000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr10:3846600-3852800	Enhancers	HMEC	breast
36	chr10:3846800-3850800	Weak transcription	Brain Angular Gyrus	brain
37	chr10:3846800-3854600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:3847000-3848800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:3847400-3848800	Flanking Active TSS	K562	blood
40	chr10:3847400-3854600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:3847400-3854600	Enhancers	Fetal Intestine Large	intestine
42	chr10:3847600-3848600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr10:3847600-3848600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr10:3847600-3848800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr10:3847600-3848800	Enhancers	Brain Substantia Nigra	brain
46	chr10:3847600-3848800	Flanking Active TSS	HUVEC	blood vessel
47	chr10:3847600-3849400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:3847600-3849600	Flanking Active TSS	Osteobl	bone
49	chr10:3847600-3850000	Enhancers	Right Ventricle	heart
50	chr10:3847600-3850200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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