Variant report

Variant	rs2378848
Chromosome Location	chr14:31729245-31729246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132373	0.86[EUR][1000 genomes]
rs10135213	0.89[EUR][1000 genomes]
rs10138200	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10148827	0.83[EUR][1000 genomes]
rs10151563	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1041088	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10872849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11156660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11156661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626839	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12184973	0.83[EUR][1000 genomes]
rs12434266	0.86[EUR][1000 genomes]
rs12588620	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12889162	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1812760	0.89[ASN][1000 genomes]
rs2146570	0.88[CEU][hapmap]
rs4981828	0.85[EUR][1000 genomes]
rs5024655	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61995523	0.86[EUR][1000 genomes]
rs6571402	0.84[EUR][1000 genomes]
rs6571403	0.89[EUR][1000 genomes]
rs6571404	0.89[EUR][1000 genomes]
rs7146274	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7147686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7156178	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727675	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7493691	0.89[ASN][1000 genomes]
rs7494025	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8022573	0.84[EUR][1000 genomes]
rs9788563	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
2	chr14:31721200-31731000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:31721200-31731000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:31726400-31736000	Enhancers	Liver	Liver
5	chr14:31726800-31730200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:31727000-31730600	Weak transcription	GM12878-XiMat	blood
7	chr14:31727200-31735000	Weak transcription	Gastric	stomach
8	chr14:31728000-31731000	Enhancers	HepG2	liver
9	chr14:31728200-31729400	Weak transcription	Stomach Mucosa	stomach
10	chr14:31728200-31730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:31728200-31730800	Weak transcription	Fetal Intestine Small	intestine
12	chr14:31728200-31731000	Weak transcription	Fetal Intestine Large	intestine
13	chr14:31728200-31731600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:31729200-31729400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:31729200-31729400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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