Variant report

Variant	rs753391
Chromosome Location	chr1:93460088-93460089
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93458427..93460268-chr1:93644070..93646479,2	K562	blood:
2	chr1:93426062..93426867-chr1:93459810..93460332,2	MCF-7	breast:
3	chr1:93458381..93461372-chr1:93479810..93482559,2	MCF-7	breast:
4	chr1:93452194..93457760-chr1:93458258..93461631,4	K562	blood:
5	chr1:93427351..93429788-chr1:93458702..93460989,2	MCF-7	breast:
6	chr1:93367819..93368523-chr1:93459419..93460269,3	MCF-7	breast:
7	chr1:93431361..93434358-chr1:93458613..93460256,2	K562	blood:
8	chr1:93433855..93434644-chr1:93459477..93460861,4	MCF-7	breast:
9	chr1:93323949..93325580-chr1:93458442..93460738,42	K562	blood:
10	chr1:93434107..93434686-chr1:93459416..93460145,4	K562	blood:
11	chr1:93324129..93325092-chr1:93459202..93460677,9	MCF-7	breast:
12	chr1:93459371..93463416-chr1:93464297..93466371,4	K562	blood:
13	chr1:93250962..93252670-chr1:93458393..93461376,2	K562	blood:
14	chr1:93324140..93325063-chr1:93459344..93460476,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122483	Chromatin interaction
ENSG00000117500	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1011663	0.92[ASN][1000 genomes]
rs10747454	0.83[ASN][1000 genomes]
rs10874752	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11164827	0.83[CEU][hapmap]
rs11164838	0.83[CEU][hapmap]
rs11164848	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11164849	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11164850	0.83[ASN][1000 genomes]
rs11164851	0.83[ASN][1000 genomes]
rs11164854	0.89[ASN][1000 genomes]
rs12049007	0.92[ASN][1000 genomes]
rs12092304	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12120036	0.92[ASN][1000 genomes]
rs12130044	0.92[ASN][1000 genomes]
rs12144226	0.85[ASN][1000 genomes]
rs12747275	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678784	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2086314	0.92[ASN][1000 genomes]
rs2127398	0.92[ASN][1000 genomes]
rs2127400	0.92[ASN][1000 genomes]
rs28561471	0.83[ASN][1000 genomes]
rs3943283	0.92[ASN][1000 genomes]
rs4515797	0.85[ASN][1000 genomes]
rs4847226	0.91[ASN][1000 genomes]
rs4847386	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4847389	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514235	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs521428	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534409	0.85[ASN][1000 genomes]
rs567613	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs579800	0.81[EUR][1000 genomes]
rs594527	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs606344	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641462	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs660870	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs663112	0.90[ASN][1000 genomes]
rs6671078	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671268	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6681240	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6681345	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7517539	0.85[ASN][1000 genomes]
rs7524934	0.90[ASN][1000 genomes]
rs770883	0.90[ASN][1000 genomes]
rs770884	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs945630	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs753391	FAM69A	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93451800-93466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:93456000-93461000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93456200-93461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:93459200-93462000	Enhancers	Fetal Intestine Large	intestine
5	chr1:93459200-93462200	Enhancers	Fetal Intestine Small	intestine
6	chr1:93459600-93461000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:93459600-93461200	Enhancers	Stomach Mucosa	stomach
8	chr1:93459800-93460800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:93459800-93460800	Weak transcription	HepG2	liver
10	chr1:93459800-93466000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:93459800-93466000	Weak transcription	GM12878-XiMat	blood

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