Variant report

Variant	rs17792712
Chromosome Location	chr14:21981275-21981276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21978010..21981856-chr14:21985023..21989241,7	MCF-7	breast:
3	chr14:21943699..21946735-chr14:21977733..21982256,4	MCF-7	breast:
4	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
5	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
6	chr14:21977974..21981747-chr14:21991693..21997000,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165821	Chromatin interaction
ENSG00000257096	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000129472	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10450907	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs10450908	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs1061027	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs11156978	1.00[YRI][hapmap]
rs11628702	1.00[YRI][hapmap]
rs3168880	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs3762163	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs719785	0.82[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17792712	TOX4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21979600-21982400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21979600-21982400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21979600-21982400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:21979600-21989400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21980000-21987200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:21980000-21990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:21980000-21993600	Weak transcription	Aorta	Aorta
8	chr14:21980200-21982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21980200-21982200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:21980200-21982200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:21980200-21982400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:21980200-21982600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:21980200-21988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:21980200-21988200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:21980200-21989000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:21980200-21989800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:21980200-21990000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:21980200-21990000	Weak transcription	Ovary	ovary
19	chr14:21980200-21990200	Weak transcription	Primary T cells from cord blood	blood
20	chr14:21980200-21991400	Weak transcription	Fetal Kidney	kidney
21	chr14:21980200-21993400	Weak transcription	Right Atrium	heart
22	chr14:21980400-21981400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:21980400-21982400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:21980400-21982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:21980400-21988600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:21980400-21988800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:21980400-21989000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:21980400-21989800	Weak transcription	Brain Anterior Caudate	brain
29	chr14:21980400-21990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:21980400-21990000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:21980400-21990200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:21980400-21990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:21980400-21991400	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:21980600-21981400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:21980600-21982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:21980600-21983200	Enhancers	HepG2	liver
37	chr14:21980600-21991800	Weak transcription	Fetal Lung	lung
38	chr14:21980600-21991800	Weak transcription	Dnd41	blood
39	chr14:21980600-21993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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