Variant report

Variant	rs10508267
Chromosome Location	chr10:3846959-3846960
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:3845321..3847632-chr10:3930350..3933088,2	K562	blood:
2	chr10:3544672..3546393-chr10:3846136..3849063,2	K562	blood:
3	chr10:3845249..3847045-chr10:3927599..3930581,2	MCF-7	breast:
4	chr10:3846003..3848657-chr10:3886879..3889430,2	K562	blood:
5	chr10:3842625..3845056-chr10:3845647..3847558,3	MCF-7	breast:
6	chr10:3846213..3848385-chr10:3895031..3897147,2	K562	blood:
7	chr10:3846136..3847799-chr10:3877909..3879695,2	K562	blood:
8	chr10:3846663..3853057-chr10:3891702..3895719,6	MCF-7	breast:
9	chr10:3844661..3847626-chr10:3892286..3894671,2	K562	blood:
10	chr10:3822110..3831216-chr10:3843525..3857606,41	MCF-7	breast:
11	chr10:3843369..3848661-chr10:3868056..3873522,8	K562	blood:
12	chr10:3846512..3848264-chr10:3935343..3937709,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction
ENSG00000233321	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10508268	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]
rs12248147	0.91[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12761012	0.88[ASN][1000 genomes]
rs17249633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34414469	0.88[ASN][1000 genomes]
rs61829729	0.88[ASN][1000 genomes]
rs61829733	1.00[ASN][1000 genomes]
rs61829734	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv540447	chr10:3777819-3847629	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv540453	chr10:3811996-3847629	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv540455	chr10:3820854-3847629	Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	n/a
7	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
8	nsv540457	chr10:3822531-3847629	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	n/a
9	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
10	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
11	esv3324337	chr10:3842852-3847150	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10508267	FBXO18	cis	cerebellum	SCAN
rs10508267	PFKP	cis	parietal	SCAN
rs10508267	SFMBT2	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:3833000-3847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:3843000-3847800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr10:3843000-3852000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr10:3843400-3848200	Weak transcription	Spleen	Spleen
5	chr10:3844400-3847600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:3844800-3847200	Flanking Active TSS	K562	blood
7	chr10:3844800-3847400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:3844800-3847600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr10:3844800-3850000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:3844800-3854600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr10:3844800-3854600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:3845000-3848200	Enhancers	Stomach Mucosa	stomach
13	chr10:3845000-3850600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr10:3845000-3851200	Enhancers	Fetal Muscle Leg	muscle
15	chr10:3845000-3851200	Enhancers	HepG2	liver
16	chr10:3845000-3854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:3845000-3854600	Enhancers	Primary T cells from cord blood	blood
18	chr10:3845000-3854600	Enhancers	Fetal Thymus	thymus
19	chr10:3845200-3847600	Weak transcription	Right Ventricle	heart
20	chr10:3845200-3849600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:3845200-3849600	Flanking Active TSS	A549	lung
22	chr10:3845200-3849800	Enhancers	Primary B cells from peripheral blood	blood
23	chr10:3845200-3850200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:3845400-3847600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr10:3845400-3847600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr10:3845400-3848600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:3845400-3849200	Weak transcription	Gastric	stomach
28	chr10:3845400-3850800	Weak transcription	Fetal Kidney	kidney
29	chr10:3845400-3850800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:3845400-3853200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:3845600-3847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:3845600-3847200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:3845600-3847800	Enhancers	NH-A	brain
34	chr10:3845600-3850400	Enhancers	Thymus	Thymus
35	chr10:3845800-3847200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr10:3845800-3847600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:3845800-3847600	Enhancers	Hela-S3	cervix
38	chr10:3845800-3847600	Enhancers	HSMM	muscle
39	chr10:3845800-3849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr10:3845800-3849800	Enhancers	Brain Hippocampus Middle	brain
41	chr10:3846000-3848400	Weak transcription	Liver	Liver
42	chr10:3846000-3850400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:3846000-3850800	Enhancers	Fetal Heart	heart
44	chr10:3846200-3847000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr10:3846200-3847600	Enhancers	HUVEC	blood vessel
46	chr10:3846200-3847800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:3846200-3852800	Enhancers	NHEK	skin
48	chr10:3846400-3847000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:3846400-3847000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr10:3846400-3847000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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