Variant report

Variant	rs2139383
Chromosome Location	chr4:142545451-142545452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1027280	0.85[EUR][1000 genomes]
rs1027281	0.84[EUR][1000 genomes]
rs1057972	0.83[EUR][1000 genomes]
rs12508335	0.84[EUR][1000 genomes]
rs12508866	0.82[JPT][hapmap]
rs12510030	0.86[EUR][1000 genomes]
rs13112582	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs13117878	1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[EUR][1000 genomes]
rs13122930	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs13123506	0.88[EUR][1000 genomes]
rs13126364	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13139573	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1493022	0.84[EUR][1000 genomes]
rs1493025	0.83[EUR][1000 genomes]
rs1519551	0.84[CHB][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs1602774	0.82[EUR][1000 genomes]
rs1602775	0.82[EUR][1000 genomes]
rs17007610	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs1873822	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2030326	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2090664	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[YRI][hapmap];0.96[EUR][1000 genomes]
rs2291596	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2322300	0.87[EUR][1000 genomes]
rs2322301	0.96[CEU][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs2322302	0.82[EUR][1000 genomes]
rs2857261	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs4104674	0.84[EUR][1000 genomes]
rs4245934	0.84[EUR][1000 genomes]
rs4530709	0.88[EUR][1000 genomes]
rs4597912	0.82[EUR][1000 genomes]
rs55849760	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6537060	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6537061	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6537063	0.82[EUR][1000 genomes]
rs6537064	0.82[EUR][1000 genomes]
rs6537070	0.84[EUR][1000 genomes]
rs6812078	0.84[EUR][1000 genomes]
rs6819823	0.96[CEU][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs6831361	0.82[EUR][1000 genomes]
rs6847434	0.88[EUR][1000 genomes]
rs6852617	0.82[EUR][1000 genomes]
rs932209	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880172	chr4:142355535-142565089	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv830094	chr4:142411738-142567788	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	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
5	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
6	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
7	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
8	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142540200-142546000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:142544200-142546200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:142544200-142547000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:142544800-142546200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:142544800-142546600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:142545000-142547600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:142545200-142545600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:142545200-142546600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:142545400-142546000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:142545400-142547200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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