Variant report

Variant	rs12562213
Chromosome Location	chr1:67658769-67658770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11465760	1.00[CEU][hapmap]
rs12566159	1.00[AFR][1000 genomes]
rs17129680	0.88[ASN][1000 genomes]
rs17129698	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17129700	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28464018	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780311	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780312	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61780314	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61780315	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67656000-67659400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:67656000-67661200	Weak transcription	Small Intestine	intestine
3	chr1:67656000-67663400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:67656600-67659000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:67656800-67661400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:67656800-67661400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:67657000-67658800	Flanking Active TSS	K562	blood
8	chr1:67657400-67661800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:67657600-67659200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:67657800-67659400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:67658000-67661400	Enhancers	GM12878-XiMat	blood
12	chr1:67658200-67660400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:67658400-67659000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:67658400-67659800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:67658400-67661400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:67658600-67661600	Enhancers	Primary T cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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