Variant report

Variant	rs2727714
Chromosome Location	chr12:119668082-119668083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1426624	0.95[EUR][1000 genomes]
rs1465516	0.94[EUR][1000 genomes]
rs2555287	0.92[CEU][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2555288	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2555289	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2727708	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2727710	0.82[CEU][hapmap]
rs2727712	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2727713	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2727715	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2727716	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6490245	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2727714	WSB2	cis	cerebellum	SCAN
rs2727714	PEX1	trans	cerebellum	SCAN
rs2727714	RNFT2	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119663600-119668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119664000-119676800	Weak transcription	Lung	lung
3	chr12:119667400-119669000	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:119667600-119668400	Active TSS	A549	lung
5	chr12:119667600-119669200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:119667800-119668200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:119667800-119668200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:119667800-119668200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr12:119667800-119668200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr12:119667800-119668200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:119667800-119668200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:119667800-119668200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:119667800-119668200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:119667800-119668200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:119667800-119668200	Active TSS	Brain Angular Gyrus	brain
16	chr12:119667800-119668200	Active TSS	Brain Anterior Caudate	brain
17	chr12:119667800-119668200	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:119667800-119668200	Active TSS	Brain Hippocampus Middle	brain
19	chr12:119667800-119668200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:119667800-119668200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:119667800-119668200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:119667800-119668200	Active TSS	Fetal Brain Female	brain
23	chr12:119667800-119668200	Active TSS	Psoas Muscle	Psoas
24	chr12:119667800-119668200	Active TSS	Right Atrium	heart
25	chr12:119667800-119668200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:119667800-119668200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:119667800-119668200	Active TSS	HUVEC	blood vessel
28	chr12:119667800-119668200	Active TSS	K562	blood
29	chr12:119667800-119668400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:119668000-119668200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:119668000-119668200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr12:119668000-119668200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:119668000-119668200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr12:119668000-119668400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr12:119668000-119669000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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