Variant report

Variant	rs7141792
Chromosome Location	chr14:65236079-65236080
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	POLR2A	chr14:65235937-65236525	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
2	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
3	chr14:64968342..64970352-chr14:65235886..65238559,2	MCF-7	breast:
4	chr14:65227919..65230155-chr14:65235739..65238455,3	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11622977	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11623010	0.97[EUR][1000 genomes]
rs11623016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11623956	0.91[CEU][hapmap]
rs12433745	1.00[CHB][hapmap]
rs17102053	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17180217	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17180350	0.82[CEU][hapmap]
rs17180497	0.91[CEU][hapmap]
rs17767466	0.90[CEU][hapmap]
rs2269305	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2269306	0.91[CEU][hapmap]
rs2269307	0.91[CEU][hapmap]
rs2269308	0.91[CEU][hapmap]
rs229597	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs229598	1.00[CHB][hapmap]
rs35595126	1.00[ASN][1000 genomes]
rs45457295	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899144	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4899145	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4902309	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4902310	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4902311	0.91[CEU][hapmap]
rs4902312	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4902313	0.91[CEU][hapmap]
rs4902314	0.88[CEU][hapmap]
rs56181906	1.00[EUR][1000 genomes]
rs57066030	1.00[ASN][1000 genomes]
rs7142689	1.00[CEU][hapmap];0.85[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7157344	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7157527	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7157684	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs911002	0.91[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7141792	PPP2R5E	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65231600-65237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
6	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
12	chr14:65232200-65237200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:65232200-65274200	Weak transcription	Gastric	stomach
16	chr14:65232400-65237800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:65232600-65237400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:65232600-65242600	Strong transcription	K562	blood
19	chr14:65233000-65237000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
21	chr14:65233600-65237400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
23	chr14:65234800-65241000	Weak transcription	Spleen	Spleen
24	chr14:65235400-65237200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr14:65235600-65236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:65235600-65236400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:65235600-65236400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:65235600-65237400	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr14:65235600-65239800	Strong transcription	Brain Germinal Matrix	brain
30	chr14:65235800-65236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:65236000-65236200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:65236000-65237400	Weak transcription	Fetal Brain Female	brain
33	chr14:65236000-65239400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:65236000-65239600	Weak transcription	Fetal Heart	heart

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