Variant report

Variant	rs606289
Chromosome Location	chr10:6561247-6561248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2387407	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs500766	0.85[JPT][hapmap]
rs510745	1.00[ASW][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[AFR][1000 genomes]
rs563798	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586355	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs627715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657701	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs667254	0.85[JPT][hapmap]
rs676674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7083579	1.00[ASW][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs606289	FBXO18	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:6549800-6562400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:6550400-6562600	Weak transcription	Brain Substantia Nigra	brain
5	chr10:6550600-6562400	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:6553200-6571400	Weak transcription	Pancreas	Pancrea
7	chr10:6556400-6563400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:6557200-6561800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:6557200-6562200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:6557400-6582400	Weak transcription	Dnd41	blood
11	chr10:6557800-6561800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:6557800-6563400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:6558200-6561800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:6558200-6562200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:6558200-6562400	Enhancers	Primary T cells from cord blood	blood
16	chr10:6558400-6563000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr10:6558400-6563200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr10:6558400-6563400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr10:6558800-6579400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:6560000-6562400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:6560000-6562800	Weak transcription	K562	blood
22	chr10:6560200-6561400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:6560200-6562400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:6560800-6561800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr10:6560800-6562400	Enhancers	Fetal Thymus	thymus
26	chr10:6561000-6562000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:6561000-6563000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr10:6561200-6561400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr10:6561200-6561400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr10:6561200-6561400	Enhancers	HMEC	breast
31	chr10:6561200-6561600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:6561200-6561600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:6561200-6561600	Genic enhancers	Thymus	Thymus
34	chr10:6561200-6561600	Enhancers	NHEK	skin
35	chr10:6561200-6562200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:6561200-6562600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:6561200-6563200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:6561200-6563400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:6561200-6568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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