Variant report

Variant	rs4883165
Chromosome Location	chr12:8654067-8654068
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10734713	0.81[EUR][1000 genomes]
rs10770793	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11045757	0.81[EUR][1000 genomes]
rs11045810	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12319337	0.98[ASN][1000 genomes]
rs4268555	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4329732	0.84[CEU][hapmap]
rs4447245	0.89[CEU][hapmap];0.80[TSI][hapmap]
rs4477485	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4486678	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4882949	0.84[CEU][hapmap]
rs4882950	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4882951	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4883157	0.84[CEU][hapmap];0.80[TSI][hapmap]
rs4883164	0.83[CEU][hapmap]
rs56976943	0.89[ASN][1000 genomes]
rs57929338	0.89[ASN][1000 genomes]
rs58014040	0.89[ASN][1000 genomes]
rs6487209	0.86[EUR][1000 genomes]
rs7132871	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7138795	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7311079	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7963053	0.83[CEU][hapmap]
rs7976958	0.84[CEU][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv518772	chr12:8615809-8667579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv518125	chr12:8615809-8671274	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1035270	chr12:8619562-8674062	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4883165	CLEC12A	cis	parietal	SCAN
rs4883165	ATN1	cis	cerebellum	SCAN
rs4883165	CLEC6A	cis	lymphoblastoid	seeQTL
rs4883165	PEX5	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8651400-8654400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:8653000-8654200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8653200-8654200	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:8653200-8655400	Enhancers	Primary T cells from cord blood	blood
5	chr12:8653200-8655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:8653800-8655200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:8653800-8655600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:8654000-8654600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:8654000-8655000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:8654000-8655200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:8654000-8655200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:8654000-8655200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:8654000-8656000	Enhancers	Primary B cells from cord blood	blood

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