Variant report

Variant	rs919390
Chromosome Location	chr19:42471050-42471051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42462070..42464510-chr19:42469276..42471870,2	K562	blood:
2	chr19:42464003..42467179-chr19:42470453..42473050,3	K562	blood:

Variant related genes	Relation type
ENSG00000105404	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409822	0.84[ASN][1000 genomes]
rs10411814	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10416501	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10419731	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10420264	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10424013	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11083642	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11665965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11667048	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668332	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11669448	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11878287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12971376	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972751	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12975677	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965727	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2081999	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3745223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3826707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61007366	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246830	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7247727	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7253563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs735571	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8109192	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9304600	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9676662	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9749440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs919390	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs919390	RABAC1	cis	multi-tissue	Pritchard

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42464000-42471400	Weak transcription	Right Ventricle	heart
2	chr19:42464000-42482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:42464000-42485400	Weak transcription	Primary T cells from cord blood	blood
4	chr19:42464000-42485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42464000-42486600	Weak transcription	Right Atrium	heart
6	chr19:42464000-42495000	Weak transcription	Fetal Brain Male	brain
7	chr19:42464200-42472000	Weak transcription	Brain Angular Gyrus	brain
8	chr19:42464200-42472600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:42464200-42473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:42464200-42473800	Weak transcription	Brain Anterior Caudate	brain
11	chr19:42464200-42479600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:42464200-42485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42464200-42485400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:42464200-42489400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:42464200-42491000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:42464200-42491200	Weak transcription	Fetal Heart	heart
17	chr19:42464200-42493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:42464200-42495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:42464200-42497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42464200-42497400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:42467600-42475600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42468600-42472400	Enhancers	Fetal Thymus	thymus
23	chr19:42470000-42487200	Strong transcription	Fetal Brain Female	brain
24	chr19:42470200-42471200	Weak transcription	Thymus	Thymus
25	chr19:42470200-42475600	Strong transcription	Left Ventricle	heart
26	chr19:42470200-42484400	Strong transcription	Dnd41	blood
27	chr19:42470200-42487200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:42470400-42475800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:42470400-42487200	Strong transcription	Brain Germinal Matrix	brain
30	chr19:42470600-42471800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:42470600-42472000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:42470600-42472200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr19:42470800-42471800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:42471000-42471400	Active TSS	Primary hematopoietic stem cells	blood
35	chr19:42471000-42471600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:42471000-42471800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr19:42471000-42471800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:42471000-42472200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:42471000-42472200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr19:42471000-42472200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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