Variant report

Variant	rs7711870
Chromosome Location	chr5:14717778-14717779
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr5:14716905-14717981	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14716702-14718600	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:14717769-14717805	K562	blood:	n/a	n/a
4	NFATC1	chr5:14717252-14717820	GM12878	blood:	n/a	n/a
5	BCL3	chr5:14716979-14717945	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:14716654-14719988	K562	blood:	n/a	n/a
7	POLR2A	chr5:14716786-14718284	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:14717448-14717839	GM12892	blood:	n/a	n/a
9	POLR2A	chr5:14716705-14717793	GM12891	blood:	n/a	n/a
10	FOSL2	chr5:14717523-14717826	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:14717320-14717830	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:14716786-14717831	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:14716770-14717868	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:14717485-14717804	GM12891	blood:	n/a	n/a
15	POLR2A	chr5:14717544-14717818	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr5:14717653-14717854	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:14716798-14717858	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14715019..14717515-chr5:14717731..14719574,2	K562	blood:
2	chr5:14717556..14719233-chr5:14725303..14727840,2	K562	blood:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000154122	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs152614	1.00[MEX][hapmap]
rs152615	1.00[MEX][hapmap]
rs152761	1.00[MEX][hapmap]
rs152785	1.00[MEX][hapmap]
rs3045	0.89[ASW][hapmap];0.94[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs57067314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936946	0.91[AFR][1000 genomes]
rs60501770	0.91[AFR][1000 genomes]
rs61087720	1.00[AMR][1000 genomes]
rs6865452	1.00[AMR][1000 genomes]
rs6886163	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6886781	1.00[AMR][1000 genomes]
rs6896981	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7711870	TOX	trans	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14684600-14726200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14691000-14722200	Weak transcription	Stomach Mucosa	stomach
3	chr5:14691200-14720400	Weak transcription	Psoas Muscle	Psoas
4	chr5:14694000-14717800	Weak transcription	Fetal Kidney	kidney
5	chr5:14696600-14717800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:14696600-14727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:14696800-14718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:14700000-14723800	Weak transcription	Small Intestine	intestine
9	chr5:14704400-14719000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:14705600-14718400	Strong transcription	Fetal Brain Female	brain
11	chr5:14707200-14718000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14707200-14718600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr5:14707400-14720200	Strong transcription	Osteobl	bone
14	chr5:14707400-14720400	Weak transcription	NHDF-Ad	bronchial
15	chr5:14707600-14718000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:14707600-14718400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:14707800-14717800	Strong transcription	Adipose Nuclei	Adipose
18	chr5:14707800-14718400	Strong transcription	Thymus	Thymus
19	chr5:14708200-14718600	Strong transcription	Dnd41	blood
20	chr5:14708400-14717800	Strong transcription	Brain Cingulate Gyrus	brain
21	chr5:14708600-14720200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:14709200-14718200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:14709400-14718200	Strong transcription	HepG2	liver
24	chr5:14709800-14718200	Strong transcription	Primary T cells from cord blood	blood
25	chr5:14709800-14718400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:14709800-14718600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:14709800-14720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:14710000-14720600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:14710000-14720800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:14710200-14717800	Strong transcription	Brain Angular Gyrus	brain
31	chr5:14710600-14717800	Strong transcription	Brain Anterior Caudate	brain
32	chr5:14710600-14718200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr5:14710600-14718600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:14710600-14722600	Weak transcription	K562	blood
35	chr5:14710800-14720800	Weak transcription	NH-A	brain
36	chr5:14711000-14717800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:14711000-14718000	Weak transcription	Fetal Lung	lung
38	chr5:14711400-14721000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:14711600-14719400	Weak transcription	Primary B cells from cord blood	blood
40	chr5:14711800-14726200	Weak transcription	HSMMtube	muscle
41	chr5:14712200-14717800	Strong transcription	Brain Substantia Nigra	brain
42	chr5:14712400-14726400	Weak transcription	HMEC	breast
43	chr5:14713200-14726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:14713400-14727400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:14713600-14726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:14713800-14727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:14714000-14720400	Strong transcription	Fetal Intestine Small	intestine
48	chr5:14714000-14726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:14714400-14722800	Weak transcription	Primary monocytes fromperipheralblood	blood

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