Variant report

Variant	rs10133824
Chromosome Location	chr14:77844592-77844593
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:
2	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
3	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
4	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
5	chr14:77785581..77788460-chr14:77843501..77845400,3	K562	blood:
6	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151445	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129477	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130481	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141114	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146635	0.80[EUR][1000 genomes]
rs10151003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483882	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11159260	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs11845345	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs11846861	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs12881960	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885247	1.00[CHB][hapmap]
rs12890411	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891485	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176771	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824094	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs33915834	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311406	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45527334	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45540040	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413461	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145606	0.80[EUR][1000 genomes]
rs7146543	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760252	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs8003282	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10133824	TMED8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77843800-77845600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:77844200-77844600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:77844200-77844600	Enhancers	HepG2	liver
4	chr14:77844200-77844800	Enhancers	Primary B cells from cord blood	blood
5	chr14:77844200-77846200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:77844200-77848600	Weak transcription	Psoas Muscle	Psoas
7	chr14:77844200-77849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:77844200-77849400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:77844400-77844600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:77844400-77844600	Enhancers	Dnd41	blood
11	chr14:77844400-77845800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr14:77844400-77847000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:77844400-77847800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:77844400-77847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:77844400-77849200	Weak transcription	Fetal Intestine Large	intestine
16	chr14:77844400-77855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:77844400-77862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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