Variant report

Variant	rs8109192
Chromosome Location	chr19:42444292-42444293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42374516..42378766-chr19:42444244..42446935,5	K562	blood:
2	chr19:42443976..42446929-chr19:42455752..42457406,2	MCF-7	breast:
3	chr19:42392649..42394240-chr19:42444125..42445799,2	K562	blood:
4	chr19:42442362..42445458-chr19:42454031..42455677,3	K562	blood:
5	chr19:42374516..42376922-chr19:42442141..42445764,4	K562	blood:
6	chr19:42386789..42388889-chr19:42443356..42447206,6	K562	blood:
7	chr19:42386381..42388977-chr19:42443156..42446083,5	K562	blood:
8	chr19:42380793..42382365-chr19:42443157..42445408,2	K562	blood:
9	chr19:42379794..42382895-chr19:42442600..42445408,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000076928	Chromatin interaction
ENSG00000105369	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	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10411814	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10414709	0.84[ASN][1000 genomes]
rs10416501	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10419731	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10420264	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10424013	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083642	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11665965	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667048	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668332	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669448	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11878287	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12971376	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975677	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1864207	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1965727	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2081999	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745223	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3826707	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61007366	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246830	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7247727	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253563	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs735571	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs919390	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9304600	0.85[EUR][1000 genomes]
rs9676662	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9749440	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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
rs8109192	RABAC1	cis	multi-tissue	Pritchard
rs8109192	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42439800-42444600	Weak transcription	Gastric	stomach
2	chr19:42443800-42444400	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr19:42443800-42444400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr19:42443800-42444400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:42443800-42444400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:42443800-42444400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr19:42443800-42444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:42443800-42444400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:42443800-42444400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:42443800-42444400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:42443800-42444600	Active TSS	Primary hematopoietic stem cells	blood
12	chr19:42443800-42444600	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:42443800-42444600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr19:42443800-42444800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:42443800-42444800	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr19:42443800-42444800	Active TSS	K562	blood
17	chr19:42443800-42445200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:42443800-42445200	Active TSS	GM12878-XiMat	blood
19	chr19:42443800-42445400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:42443800-42445400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:42443800-42445400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:42443800-42445400	Active TSS	Osteobl	bone
23	chr19:42443800-42445600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:42443800-42445600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:42443800-42445600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:42444000-42444400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:42444000-42444400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr19:42444000-42444400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:42444000-42444400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:42444000-42444400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Placenta	Placenta
43	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr19:42444000-42444400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
45	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	HMEC	breast
46	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
47	chr19:42444000-42444400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr19:42444000-42444600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:42444000-42444600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr19:42444000-42444600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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