Variant report

Variant	rs2030326
Chromosome Location	chr4:142580434-142580435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1027280	0.84[EUR][1000 genomes]
rs1027281	0.83[EUR][1000 genomes]
rs1057972	0.83[EUR][1000 genomes]
rs12508335	0.87[EUR][1000 genomes]
rs12510030	0.85[EUR][1000 genomes]
rs13112582	0.87[EUR][1000 genomes]
rs13117878	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13122930	0.85[EUR][1000 genomes]
rs13123506	0.87[EUR][1000 genomes]
rs13126364	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13139573	0.87[EUR][1000 genomes]
rs1493022	0.83[EUR][1000 genomes]
rs1493025	0.83[EUR][1000 genomes]
rs1519551	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1602774	0.85[EUR][1000 genomes]
rs1602775	0.85[EUR][1000 genomes]
rs17007610	0.85[EUR][1000 genomes]
rs1873822	0.87[EUR][1000 genomes]
rs2090664	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2139383	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2291596	0.83[EUR][1000 genomes]
rs2322300	0.86[EUR][1000 genomes]
rs2322301	0.87[EUR][1000 genomes]
rs2322302	0.85[EUR][1000 genomes]
rs2857261	0.87[EUR][1000 genomes]
rs4104674	0.83[EUR][1000 genomes]
rs4245934	0.83[EUR][1000 genomes]
rs4530709	0.87[EUR][1000 genomes]
rs4597912	0.85[EUR][1000 genomes]
rs55849760	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537060	0.87[EUR][1000 genomes]
rs6537061	0.87[EUR][1000 genomes]
rs6537063	0.85[EUR][1000 genomes]
rs6537064	0.84[EUR][1000 genomes]
rs6537070	0.83[EUR][1000 genomes]
rs6812078	0.83[EUR][1000 genomes]
rs6819823	0.87[EUR][1000 genomes]
rs6831361	0.85[EUR][1000 genomes]
rs6847434	0.87[EUR][1000 genomes]
rs6852617	0.85[EUR][1000 genomes]
rs932209	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:142565400-142580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:142567800-142586400	Weak transcription	HSMM	muscle
3	chr4:142568800-142581000	Weak transcription	A549	lung
4	chr4:142569200-142582800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:142570400-142586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:142574200-142586600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:142575400-142589400	Weak transcription	Aorta	Aorta
8	chr4:142576400-142592600	Weak transcription	Psoas Muscle	Psoas
9	chr4:142576400-142598600	Weak transcription	Left Ventricle	heart
10	chr4:142579600-142584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:142579600-142584800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:142579800-142580600	Weak transcription	GM12878-XiMat	blood
13	chr4:142579800-142583200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:142579800-142589600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:142580400-142580600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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