Variant report

Variant	rs12984129
Chromosome Location	chr19:53584736-53584737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10406368	0.88[ASN][1000 genomes]
rs10407016	0.90[ASN][1000 genomes]
rs10413980	0.90[ASN][1000 genomes]
rs10426984	0.90[ASN][1000 genomes]
rs11669168	0.83[ASN][1000 genomes]
rs11670432	0.88[ASN][1000 genomes]
rs12975777	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745178	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs4305192	0.93[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs4801951	0.83[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102965	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12984129	DUXA	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53564600-53586800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53564800-53586600	ZNF genes & repeats	Liver	Liver
3	chr19:53568000-53586400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:53570200-53587400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr19:53571000-53587200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
8	chr19:53571800-53586000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr19:53571800-53586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
11	chr19:53574800-53585200	Weak transcription	Psoas Muscle	Psoas
12	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:53576200-53586400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
17	chr19:53577400-53587600	Weak transcription	Fetal Brain Male	brain
18	chr19:53577600-53587800	Weak transcription	NHLF	lung
19	chr19:53578200-53588600	Weak transcription	Fetal Kidney	kidney
20	chr19:53578400-53587400	Weak transcription	Brain Anterior Caudate	brain
21	chr19:53578400-53588000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:53578600-53585200	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:53578600-53585400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:53578600-53586400	Weak transcription	NH-A	brain
25	chr19:53578600-53587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:53578800-53588000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr19:53578800-53593400	Weak transcription	HepG2	liver
28	chr19:53579000-53585400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
29	chr19:53579000-53587400	Weak transcription	NHDF-Ad	bronchial
30	chr19:53579200-53585200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:53579200-53585200	Weak transcription	Placenta	Placenta
32	chr19:53579200-53585600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:53579200-53585600	Weak transcription	Right Ventricle	heart
34	chr19:53579400-53584800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:53579400-53585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:53580000-53585200	Weak transcription	HUVEC	blood vessel
37	chr19:53580200-53586400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:53580400-53585200	Weak transcription	Left Ventricle	heart
39	chr19:53580400-53585600	Weak transcription	Brain Angular Gyrus	brain
40	chr19:53580400-53588000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:53580600-53585200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr19:53580600-53585200	Weak transcription	HSMMtube	muscle
43	chr19:53580600-53585600	Weak transcription	Gastric	stomach
44	chr19:53580600-53585600	Weak transcription	Spleen	Spleen
45	chr19:53580600-53585800	Weak transcription	Pancreas	Pancrea
46	chr19:53580600-53586000	Weak transcription	Fetal Thymus	thymus
47	chr19:53580600-53586000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:53580600-53587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:53580600-53588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:53580600-53588800	Weak transcription	Colon Smooth Muscle	Colon

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