Variant report

Variant	rs4849278
Chromosome Location	chr2:114551994-114551995
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	chr2:114512090..114514433-chr2:114551367..114553729,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10167730	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10177576	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10179657	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10209330	0.92[ASN][1000 genomes]
rs10496453	0.86[ASN][1000 genomes]
rs11123206	0.86[AMR][1000 genomes]
rs11123207	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11686297	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694130	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12613159	0.85[ASN][1000 genomes]
rs12711788	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17040397	0.86[ASN][1000 genomes]
rs2122097	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2442136	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2595152	0.86[ASN][1000 genomes]
rs2687623	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2687626	0.85[ASN][1000 genomes]
rs2687627	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2687628	0.84[ASN][1000 genomes]
rs2687630	0.80[ASN][1000 genomes]
rs28451366	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34332133	0.84[ASN][1000 genomes]
rs35734534	0.85[ASN][1000 genomes]
rs4848349	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4848350	0.86[ASN][1000 genomes]
rs4849275	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4849277	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4849279	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6711542	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7600228	0.86[AMR][1000 genomes];0.92[ASN][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	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4849278	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs4849278	RPL23AP7	cis	lung	GTEx
rs4849278	RPL23AP7	cis	Whole Blood	GTEx
rs4849278	RPL23AP7	cis	Artery Aorta	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550000-114552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:114550000-114552600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:114550000-114552800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:114550000-114552800	Weak transcription	HSMM	muscle
5	chr2:114550000-114557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:114550200-114552400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:114550200-114552400	Weak transcription	A549	lung
8	chr2:114550200-114552400	Weak transcription	Osteobl	bone
9	chr2:114550200-114552600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:114550200-114552600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:114550200-114552600	Weak transcription	NHLF	lung
12	chr2:114550200-114553000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114550200-114555800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:114550400-114552600	Weak transcription	Fetal Kidney	kidney
16	chr2:114550400-114552800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:114550600-114552800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:114550800-114552600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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