Variant report

Variant	rs2710423
Chromosome Location	chr12:45264705-45264706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2703058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710422	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs369442	1.00[AMR][1000 genomes]
rs60628417	1.00[AMR][1000 genomes]
rs73277302	1.00[AMR][1000 genomes]
rs73279103	1.00[AMR][1000 genomes]
rs73279110	1.00[AMR][1000 genomes]
rs73279111	1.00[AMR][1000 genomes]
rs73279124	1.00[AMR][1000 genomes]
rs73279126	1.00[AMR][1000 genomes]
rs73279129	1.00[AMR][1000 genomes]
rs73279149	1.00[AMR][1000 genomes]
rs73279151	1.00[AMR][1000 genomes]
rs73279187	1.00[AMR][1000 genomes]
rs73281085	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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45257000-45266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:45257400-45265200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45258600-45265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45258600-45267800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:45259600-45266000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:45261200-45264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:45261200-45265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45262000-45267800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:45263000-45269000	Active TSS	Fetal Brain Female	brain
11	chr12:45263400-45266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:45263600-45264800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45263600-45265400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:45264000-45264800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:45264000-45264800	Weak transcription	Fetal Brain Male	brain
16	chr12:45264000-45265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:45264000-45265200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:45264600-45265400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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