Variant report

Variant	rs60365478
Chromosome Location	chr12:21844514-21844515
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16924224	1.00[EUR][1000 genomes]
rs2081819	1.00[EUR][1000 genomes]
rs55713096	1.00[EUR][1000 genomes]
rs56055068	1.00[EUR][1000 genomes]
rs56271252	1.00[AFR][1000 genomes]
rs56729740	1.00[AFR][1000 genomes]
rs57200111	1.00[AFR][1000 genomes]
rs58998049	1.00[EUR][1000 genomes]
rs59046730	1.00[EUR][1000 genomes]
rs59522091	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60462646	1.00[EUR][1000 genomes]
rs72554071	1.00[EUR][1000 genomes]
rs74066743	1.00[EUR][1000 genomes]
rs74066745	1.00[EUR][1000 genomes]
rs74067603	1.00[EUR][1000 genomes]
rs74067604	1.00[EUR][1000 genomes]
rs74067606	1.00[EUR][1000 genomes]
rs74067608	1.00[EUR][1000 genomes]
rs74067610	1.00[EUR][1000 genomes]
rs74067611	1.00[EUR][1000 genomes]
rs74069343	0.93[AFR][1000 genomes]
rs74069352	1.00[AFR][1000 genomes]
rs74069362	1.00[AFR][1000 genomes]
rs74069363	1.00[AFR][1000 genomes]
rs74069365	1.00[EUR][1000 genomes]
rs74069366	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr12:21841200-21847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:21841200-21848200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:21842800-21844800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:21842800-21845000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:21842800-21845400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:21843000-21844800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:21843000-21845200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:21843000-21845400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:21843000-21845800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:21843200-21844800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:21843200-21845000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:21843200-21845000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:21843200-21845000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:21844000-21844800	Enhancers	Primary T cells from cord blood	blood

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