Variant report

Variant	rs1045842
Chromosome Location	chr14:21927276-21927277
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	chr14:21924719..21926379-chr14:21926397..21928369,2	MCF-7	breast:
2	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
3	chr14:21924893..21927310-chr14:22025908..22027691,2	MCF-7	breast:
4	chr14:21926286..21927863-chr14:21941529..21943943,2	K562	blood:
5	chr14:21926643..21928443-chr14:21945078..21946775,2	K562	blood:
6	chr14:21924456..21927951-chr14:21928618..21932822,6	K562	blood:
7	chr14:21927154..21929240-chr14:21977185..21979577,2	MCF-7	breast:
8	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
9	chr14:21924729..21926347-chr14:21926408..21928201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165819	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000129472	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1008268	0.80[AMR][1000 genomes]
rs10132333	0.83[GIH][hapmap];0.81[MEX][hapmap];0.86[AMR][1000 genomes]
rs10134108	0.82[MEX][hapmap]
rs10135022	0.86[AMR][1000 genomes]
rs10139379	0.82[AMR][1000 genomes]
rs10141933	0.87[EUR][1000 genomes]
rs10142478	1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs10143000	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10143061	0.83[GIH][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes]
rs10146717	0.82[MEX][hapmap]
rs10150329	0.82[AMR][1000 genomes]
rs11156996	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11623642	0.80[AMR][1000 genomes]
rs11624716	0.82[MEX][hapmap]
rs1263788	0.89[EUR][1000 genomes]
rs1263790	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1263792	0.85[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs1263797	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1263798	0.91[EUR][1000 genomes]
rs1543494	0.82[MEX][hapmap]
rs1794219	0.91[EUR][1000 genomes]
rs1998332	0.82[MEX][hapmap]
rs1999139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007434	0.82[AMR][1000 genomes]
rs2065096	0.84[AMR][1000 genomes]
rs2146062	0.82[AMR][1000 genomes]
rs2295865	0.84[AMR][1000 genomes]
rs3762156	0.82[AMR][1000 genomes]
rs3762157	0.86[AMR][1000 genomes]
rs3762158	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs3762159	0.82[MEX][hapmap]
rs3762162	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs4144189	0.82[JPT][hapmap]
rs4982445	0.86[AMR][1000 genomes]
rs6571770	0.86[AMR][1000 genomes]
rs6571797	0.82[MEX][hapmap]
rs6571826	0.80[AMR][1000 genomes]
rs6571843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6571845	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs6571846	0.86[CHB][hapmap]
rs6571856	0.82[EUR][1000 genomes]
rs7141654	0.89[CHB][hapmap]
rs7143670	1.00[YRI][hapmap]
rs7151259	0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs7152833	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs7157961	0.87[EUR][1000 genomes]
rs7159433	0.96[EUR][1000 genomes]
rs7160488	0.82[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs8003160	1.00[YRI][hapmap]
rs8004388	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs8005163	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap]
rs8007893	0.80[AMR][1000 genomes]
rs8008670	0.82[CEU][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs8009789	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs8017630	0.80[AMR][1000 genomes]
rs8018369	0.82[AMR][1000 genomes]
rs8020149	0.82[AMR][1000 genomes]
rs8022395	0.83[GIH][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes]
rs8022480	1.00[YRI][hapmap]
rs8022755	0.82[AMR][1000 genomes]
rs927412	0.86[AMR][1000 genomes]
rs9322978	0.88[MEX][hapmap]

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	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	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1045842	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21924800-21928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21924800-21928400	Weak transcription	Spleen	Spleen
3	chr14:21924800-21928800	Weak transcription	Gastric	stomach
4	chr14:21924800-21929200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21924800-21929200	Weak transcription	Esophagus	oesophagus
6	chr14:21924800-21929200	Weak transcription	Lung	lung
7	chr14:21924800-21929200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21925000-21927400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:21925000-21927400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:21925000-21927400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:21925000-21927800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:21925000-21927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:21925000-21927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:21925000-21927800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:21925000-21928000	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:21925000-21928000	Weak transcription	Left Ventricle	heart
18	chr14:21925000-21928000	Weak transcription	HSMMtube	muscle
19	chr14:21925000-21928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:21925000-21928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:21925000-21928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:21925000-21928800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:21925000-21928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:21925000-21928800	Weak transcription	Aorta	Aorta
25	chr14:21925000-21928800	Weak transcription	NHDF-Ad	bronchial
26	chr14:21925000-21929000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:21925000-21929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:21925000-21929000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:21925000-21929000	Weak transcription	Right Ventricle	heart
30	chr14:21925000-21929000	Weak transcription	Osteobl	bone
31	chr14:21925000-21929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:21925000-21929200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:21925000-21929200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:21925000-21929200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:21925000-21929200	Weak transcription	Brain Substantia Nigra	brain
36	chr14:21925000-21929200	Weak transcription	Fetal Brain Female	brain
37	chr14:21925000-21929200	Weak transcription	Fetal Lung	lung
38	chr14:21925000-21929200	Weak transcription	Ovary	ovary
39	chr14:21925000-21929200	Weak transcription	Pancreas	Pancrea
40	chr14:21925000-21929200	Weak transcription	GM12878-XiMat	blood
41	chr14:21925000-21929200	Weak transcription	NHLF	lung
42	chr14:21925000-21929400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:21925000-21929400	Weak transcription	Brain Germinal Matrix	brain
44	chr14:21925000-21929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:21925000-21935600	Weak transcription	Fetal Brain Male	brain
46	chr14:21925000-21935800	Weak transcription	Fetal Heart	heart
47	chr14:21925000-21940400	Weak transcription	K562	blood
48	chr14:21925000-21943800	Weak transcription	HMEC	breast
49	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
50	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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