Variant report

Variant	rs1061027
Chromosome Location	chr14:21967133-21967134
allele	A/C
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	chr14:21966429..21967420-chr14:22025503..22026403,9	K562	blood:
2	chr14:21965763..21969009-chr14:21976812..21979865,4	K562	blood:
3	chr14:21935572..21937160-chr14:21965846..21967879,2	MCF-7	breast:
4	chr14:21966403..21967388-chr14:22025432..22026169,5	MCF-7	breast:
5	chr14:21965602..21968556-chr14:21970950..21973416,3	K562	blood:
6	chr14:21966135..21967334-chr14:22024735..22026336,7	MCF-7	breast:
7	chr14:21943958..21946610-chr14:21966325..21968366,2	MCF-7	breast:
8	chr14:21966582..21968425-chr14:21990390..21992940,3	K562	blood:
9	chr14:21965159..21967752-chr14:22024395..22027094,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10450907	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10450908	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850178	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852218	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13329035	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17516362	0.90[EUR][1000 genomes]
rs17792712	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs2282046	0.81[JPT][hapmap]
rs3168880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762163	0.86[EUR][1000 genomes]
rs55690316	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58901398	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61973218	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61973219	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61973220	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61973223	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66771279	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719785	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv85879	chr14:21965690-21974198	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1061027	TOX4	Cis_1M	lymphoblastoid	RTeQTL
rs1061027	C14orf92	cis	multi-tissue	Pritchard
rs1061027	METTL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
4	chr14:21954600-21972600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:21954800-21971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:21954800-21972000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:21954800-21972000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr14:21954800-21972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:21954800-21972200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr14:21954800-21977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:21955000-21972000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:21955000-21972400	Strong transcription	Fetal Thymus	thymus
13	chr14:21955200-21972000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:21955200-21972200	Strong transcription	Liver	Liver
15	chr14:21955200-21972600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:21955400-21967400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:21955400-21971400	Strong transcription	Placenta	Placenta
18	chr14:21955400-21971600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:21955400-21972000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:21955400-21972000	Strong transcription	Fetal Intestine Large	intestine
21	chr14:21955400-21972000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr14:21955400-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:21955400-21972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:21955400-21972200	Strong transcription	Brain Anterior Caudate	brain
25	chr14:21955400-21972600	Strong transcription	Dnd41	blood
26	chr14:21955600-21971400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:21955600-21971400	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:21955600-21972000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:21955600-21972000	Strong transcription	Brain Hippocampus Middle	brain
30	chr14:21955600-21972000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr14:21955600-21972000	Strong transcription	Fetal Lung	lung
32	chr14:21955600-21972000	Strong transcription	Fetal Stomach	stomach
33	chr14:21955600-21972000	Strong transcription	Left Ventricle	heart
34	chr14:21955600-21972000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:21955600-21972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:21955600-21972000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:21955600-21972000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr14:21955600-21972000	Strong transcription	Thymus	Thymus
39	chr14:21955600-21972000	Strong transcription	Spleen	Spleen
40	chr14:21955600-21972200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:21955600-21972200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr14:21955600-21972200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:21955600-21977200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:21955800-21972000	Strong transcription	HSMMtube	muscle
45	chr14:21955800-21972200	Strong transcription	Fetal Brain Female	brain
46	chr14:21956000-21972000	Strong transcription	Adipose Nuclei	Adipose
47	chr14:21956800-21972200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:21957000-21972000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr14:21957400-21971200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:21959000-21972200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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