Variant report

Variant	rs2283250
Chromosome Location	chr11:17820177-17820178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17814065..17815842-chr11:17818470..17821411,2	K562	blood:
2	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160556	0.96[ASN][1000 genomes]
rs10766440	0.96[ASN][1000 genomes]
rs10832860	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1236206	0.95[ASN][1000 genomes]
rs2079227	1.00[ASW][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2237950	0.92[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.95[ASN][1000 genomes]
rs2237952	0.93[ASN][1000 genomes]
rs2283251	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2299634	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[ASN][1000 genomes]
rs3802969	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802970	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4757589	1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7110010	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs999420	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv515890	chr11:17816412-17821182	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv526501	chr11:17816412-17824372	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283250	SPON1	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
2	chr11:17801600-17821800	Weak transcription	Spleen	Spleen
3	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
5	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
8	chr11:17808800-17822200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:17808800-17828600	Weak transcription	Fetal Brain Female	brain
10	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
11	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17809200-17824800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:17809600-17823600	Weak transcription	HSMMtube	muscle
14	chr11:17810400-17822200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:17810400-17829400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:17811000-17830800	Weak transcription	Primary T cells from cord blood	blood
17	chr11:17814200-17823200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:17815600-17841400	Weak transcription	HepG2	liver
19	chr11:17818400-17821200	Enhancers	Right Atrium	heart
20	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:17819200-17821000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:17819200-17821200	Enhancers	HMEC	breast
23	chr11:17819200-17823800	Enhancers	Fetal Heart	heart
24	chr11:17819400-17820600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:17819400-17820800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:17819400-17821200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:17819400-17821200	Enhancers	Esophagus	oesophagus
28	chr11:17819400-17821800	Enhancers	Left Ventricle	heart
29	chr11:17819400-17821800	Enhancers	Psoas Muscle	Psoas
30	chr11:17819400-17821800	Enhancers	Right Ventricle	heart
31	chr11:17819600-17820800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:17819600-17821200	Enhancers	Fetal Muscle Leg	muscle
33	chr11:17819800-17820200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:17819800-17820600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr11:17819800-17821000	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:17820000-17820200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:17820000-17820200	Enhancers	NHEK	skin
38	chr11:17820000-17822800	Weak transcription	Fetal Brain Male	brain

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