Variant report

Variant	rs7978122
Chromosome Location	chr12:10712937-10712938
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11836109	0.83[AMR][1000 genomes]
rs11836264	0.83[AMR][1000 genomes]
rs16915589	0.85[AMR][1000 genomes]
rs55706835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55785135	0.83[AMR][1000 genomes]
rs57035205	0.83[AMR][1000 genomes]
rs58067632	0.91[AMR][1000 genomes]
rs58677311	0.83[AMR][1000 genomes]
rs58898379	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59582425	0.85[AMR][1000 genomes]
rs59613394	0.83[AMR][1000 genomes]
rs59816952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60400937	0.91[AMR][1000 genomes]
rs60461379	0.83[AMR][1000 genomes]
rs61143136	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61473048	0.83[AMR][1000 genomes]
rs6488311	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7303086	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7303851	0.83[AMR][1000 genomes]
rs7308730	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7309605	0.85[AMR][1000 genomes]
rs7316572	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73252005	0.91[AMR][1000 genomes]
rs73252057	0.85[AMR][1000 genomes]
rs73254032	0.92[AMR][1000 genomes]
rs73266180	0.83[AMR][1000 genomes]
rs73266182	0.83[AMR][1000 genomes]
rs73266183	0.83[AMR][1000 genomes]
rs74060455	0.83[AMR][1000 genomes]
rs7957198	0.85[AMR][1000 genomes]
rs7962734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972993	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975390	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10707800-10713200	Enhancers	Dnd41	blood
2	chr12:10709800-10713400	Enhancers	Thymus	Thymus
3	chr12:10710200-10714200	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:10710800-10724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:10711200-10713400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:10712200-10713000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:10712200-10713000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10712200-10713000	Weak transcription	Fetal Thymus	thymus
9	chr12:10712200-10713200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:10712200-10714000	Enhancers	Primary T cells from cord blood	blood
11	chr12:10712200-10714000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:10712200-10714800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:10712400-10713400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:10712400-10714000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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