Variant report

Variant	rs4714849
Chromosome Location	chr6:45239261-45239262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1284957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1284971	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1284976	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1284977	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1284984	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1284994	0.87[EUR][1000 genomes]
rs1284997	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1284998	0.88[EUR][1000 genomes]
rs1285016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1329712	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1630758	0.87[EUR][1000 genomes]
rs1748241	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1797162	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2396378	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2763135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4469289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4520015	1.00[AFR][1000 genomes]
rs56000304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56051040	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56142650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56218508	1.00[AFR][1000 genomes]
rs56300352	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6908280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6933742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72857008	1.00[AFR][1000 genomes]
rs72857044	1.00[AFR][1000 genomes]
rs72857059	1.00[AFR][1000 genomes]
rs72857063	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72857065	1.00[AFR][1000 genomes]
rs72857066	1.00[AFR][1000 genomes]
rs72858503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72858507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72858522	1.00[AFR][1000 genomes]
rs72858523	1.00[AFR][1000 genomes]
rs72858529	1.00[AFR][1000 genomes]
rs72858566	1.00[AFR][1000 genomes]
rs72869128	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72869130	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72869143	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72870914	1.00[AFR][1000 genomes]
rs72870922	1.00[AFR][1000 genomes]
rs7756721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9296454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9472459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028068	chr6:45169010-45246577	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45225600-45248800	Weak transcription	Ovary	ovary
2	chr6:45238400-45239800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:45238400-45239800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr6:45238800-45239800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:45239000-45239400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:45239000-45239400	ZNF genes & repeats	Dnd41	blood
7	chr6:45239000-45239600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45239200-45239600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr6:45239200-45239600	Strong transcription	Primary T cells from cord blood	blood
10	chr6:45239200-45239800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr6:45239200-45248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:45239200-45248800	Weak transcription	Aorta	Aorta

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