Variant report

Variant	rs4675493
Chromosome Location	chr2:205955135-205955136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10084396	1.00[AMR][1000 genomes]
rs10166926	1.00[AMR][1000 genomes]
rs1017399	1.00[AMR][1000 genomes]
rs12694014	1.00[AMR][1000 genomes]
rs1368947	1.00[AMR][1000 genomes]
rs1434155	1.00[AMR][1000 genomes]
rs1510767	1.00[AMR][1000 genomes]
rs1510768	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1540362	1.00[AMR][1000 genomes]
rs1540363	1.00[AMR][1000 genomes]
rs1567502	1.00[AMR][1000 genomes]
rs4673312	1.00[AMR][1000 genomes]
rs4673314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675479	1.00[AMR][1000 genomes]
rs4675480	1.00[AMR][1000 genomes]
rs4675483	1.00[AMR][1000 genomes]
rs4675492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55668233	1.00[AMR][1000 genomes]
rs6748535	1.00[AMR][1000 genomes]
rs7424966	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585765	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602418	1.00[AMR][1000 genomes]
rs7607440	1.00[AMR][1000 genomes]
rs849105	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849108	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849109	0.82[AFR][1000 genomes]
rs849112	1.00[AMR][1000 genomes]
rs849114	1.00[AMR][1000 genomes]
rs849117	1.00[AMR][1000 genomes]
rs849130	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs849131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs971766	1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 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	chr2:205945600-205956600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:205948400-205956600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:205949800-205956400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:205950000-205956600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:205953400-205978600	Weak transcription	Fetal Lung	lung
6	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:205954200-205957400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:205954400-205955200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:205954600-205956600	Enhancers	Fetal Heart	heart
10	chr2:205955000-205956000	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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