Variant report

Variant	rs73279129
Chromosome Location	chr12:45224819-45224820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2703058	1.00[AMR][1000 genomes]
rs2710422	1.00[AMR][1000 genomes]
rs2710423	1.00[AMR][1000 genomes]
rs369442	1.00[AMR][1000 genomes]
rs60628417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277302	1.00[AMR][1000 genomes]
rs73279103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283041	1.00[AMR][1000 genomes]
rs73283042	1.00[AMR][1000 genomes]
rs73284986	1.00[AMR][1000 genomes]
rs73287008	1.00[AMR][1000 genomes]
rs73287009	1.00[AMR][1000 genomes]
rs73288937	1.00[AMR][1000 genomes]
rs73288940	1.00[AMR][1000 genomes]
rs73288992	1.00[AMR][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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45220200-45227800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:45220600-45242000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45221800-45228000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:45221800-45229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45221800-45242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:45222200-45226200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:45222400-45227800	Enhancers	Primary T cells from cord blood	blood
11	chr12:45223200-45229400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:45224000-45225200	Enhancers	Fetal Brain Female	brain
13	chr12:45224000-45228000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:45224200-45225200	Enhancers	Fetal Brain Male	brain
15	chr12:45224200-45226000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:45224600-45225200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:45224800-45225200	Weak transcription	Fetal Intestine Small	intestine
18	chr12:45224800-45225800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:45224800-45228400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:45224800-45229000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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