Variant report

Variant	rs12972751
Chromosome Location	chr19:42468606-42468607
allele	C/T
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:15)

rs_ID	r²[population]
rs10411814	0.81[EUR][1000 genomes]
rs10416501	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10424013	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11083642	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11878287	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12975677	0.86[AMR][1000 genomes]
rs1965727	0.81[EUR][1000 genomes]
rs7246830	0.84[ASN][1000 genomes]
rs7247727	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7253563	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs735571	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs919390	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304600	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9676662	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9749440	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12972751	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42464000-42469400	Weak transcription	Thymus	Thymus
2	chr19:42464000-42470200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:42464000-42470200	Weak transcription	Left Ventricle	heart
4	chr19:42464000-42470400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:42464000-42471400	Weak transcription	Right Ventricle	heart
6	chr19:42464000-42482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:42464000-42485400	Weak transcription	Primary T cells from cord blood	blood
8	chr19:42464000-42485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:42464000-42486600	Weak transcription	Right Atrium	heart
10	chr19:42464000-42495000	Weak transcription	Fetal Brain Male	brain
11	chr19:42464200-42470000	Weak transcription	Fetal Brain Female	brain
12	chr19:42464200-42470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:42464200-42470200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr19:42464200-42470200	Weak transcription	Dnd41	blood
15	chr19:42464200-42470400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:42464200-42470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:42464200-42470400	Weak transcription	Brain Germinal Matrix	brain
18	chr19:42464200-42470400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:42464200-42470400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr19:42464200-42470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:42464200-42471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:42464200-42472000	Weak transcription	Brain Angular Gyrus	brain
23	chr19:42464200-42472600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:42464200-42473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:42464200-42473800	Weak transcription	Brain Anterior Caudate	brain
26	chr19:42464200-42479600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:42464200-42485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:42464200-42485400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr19:42464200-42489400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:42464200-42491000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:42464200-42491200	Weak transcription	Fetal Heart	heart
32	chr19:42464200-42493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:42464200-42495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:42464200-42497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:42464200-42497400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:42465600-42469200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:42467600-42470400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:42467600-42475600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:42468600-42472400	Enhancers	Fetal Thymus	thymus

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