Variant report

Variant	rs34338384
Chromosome Location	chr1:160575718-160575719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12058421	1.00[ASN][1000 genomes]
rs34378534	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3796504	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66847543	1.00[AFR][1000 genomes]
rs71628184	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160574000-160578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:160574200-160576200	Weak transcription	Thymus	Thymus
3	chr1:160575000-160575800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:160575000-160577400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:160575000-160577600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:160575200-160576400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:160575200-160577200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:160575200-160577400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:160575200-160577600	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:160575200-160577600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160575200-160577600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:160575200-160577800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:160575400-160576400	Enhancers	Fetal Thymus	thymus
14	chr1:160575400-160577000	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:160575400-160577600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:160575600-160576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:160575600-160577000	Enhancers	Fetal Intestine Large	intestine
18	chr1:160575600-160577000	Flanking Active TSS	GM12878-XiMat	blood
19	chr1:160575600-160584000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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

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