Variant report

Variant	rs2256834
Chromosome Location	chr4:120663939-120663940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10001829	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10011928	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10018308	0.85[EUR][1000 genomes]
rs10023652	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11722624	0.93[ASN][1000 genomes]
rs11734863	0.93[ASN][1000 genomes]
rs12331776	0.80[EUR][1000 genomes]
rs12510467	0.80[EUR][1000 genomes]
rs12512171	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13103043	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17005489	0.98[ASN][1000 genomes]
rs2248806	0.88[ASN][1000 genomes]
rs2250346	0.98[ASN][1000 genomes]
rs2252621	0.90[ASN][1000 genomes]
rs2252625	0.93[ASN][1000 genomes]
rs2256054	0.95[ASN][1000 genomes]
rs2389903	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583596	0.95[ASN][1000 genomes]
rs2583597	0.95[ASN][1000 genomes]
rs2583604	0.98[ASN][1000 genomes]
rs2583605	0.98[ASN][1000 genomes]
rs2583608	0.88[ASN][1000 genomes]
rs2583616	0.97[ASN][1000 genomes]
rs2583617	0.98[ASN][1000 genomes]
rs2583619	0.98[ASN][1000 genomes]
rs2714960	0.97[ASN][1000 genomes]
rs2714961	0.97[ASN][1000 genomes]
rs2714965	0.87[ASN][1000 genomes]
rs2714970	0.98[ASN][1000 genomes]
rs2714973	0.98[ASN][1000 genomes]
rs2714976	0.95[ASN][1000 genomes]
rs2714978	0.95[ASN][1000 genomes]
rs2714980	0.98[ASN][1000 genomes]
rs2714985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2715026	0.81[ASN][1000 genomes]
rs28663988	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34209241	0.81[EUR][1000 genomes]
rs4094	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4337717	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4834804	0.80[EUR][1000 genomes]
rs725449	0.98[ASN][1000 genomes]
rs7437666	0.98[ASN][1000 genomes]
rs749526	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs752650	0.81[EUR][1000 genomes]
rs7655035	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7683474	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7693769	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7694773	0.84[EUR][1000 genomes]
rs7699252	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs874425	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1010638	chr4:120586178-120671835	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1009771	chr4:120590902-120665812	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1803992	chr4:120649398-120665812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2256834	RP11-33B1.1	cis	lung	GTEx
rs2256834	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs2256834	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120658000-120670000	Weak transcription	Psoas Muscle	Psoas
2	chr4:120658000-120670200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:120658200-120668000	Weak transcription	NHLF	lung
4	chr4:120659600-120668000	Weak transcription	Aorta	Aorta
5	chr4:120661400-120669200	Weak transcription	Fetal Lung	lung
6	chr4:120661800-120669800	Weak transcription	Fetal Stomach	stomach
7	chr4:120663800-120664400	Enhancers	Fetal Muscle Trunk	muscle
8	chr4:120663800-120664400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links