Variant report

Variant	rs229598
Chromosome Location	chr14:65236278-65236279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

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 data

(count:5 , 50 per page) page: 1

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:
5	chr14:65230521..65233110-chr14:65236260..65237883,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10148978	0.81[ASN][1000 genomes]
rs12433436	1.00[CHB][hapmap]
rs12433745	1.00[CHB][hapmap]
rs12434874	1.00[CHB][hapmap]
rs12883860	0.87[ASN][1000 genomes]
rs12884320	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12885036	0.87[ASN][1000 genomes]
rs12889768	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12892540	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17102216	1.00[CHB][hapmap]
rs189086	0.94[ASN][1000 genomes]
rs2269305	1.00[CHB][hapmap]
rs2269306	1.00[CHB][hapmap]
rs2269307	1.00[CHB][hapmap]
rs2269308	1.00[CHB][hapmap]
rs2277504	1.00[CHB][hapmap]
rs229582	0.87[ASN][1000 genomes]
rs229601	0.87[ASN][1000 genomes]
rs229602	0.87[ASN][1000 genomes]
rs34132719	0.87[ASN][1000 genomes]
rs34494653	0.94[ASN][1000 genomes]
rs34935243	0.87[ASN][1000 genomes]
rs35621884	0.94[ASN][1000 genomes]
rs35752616	0.87[ASN][1000 genomes]
rs3742601	1.00[CHB][hapmap]
rs3759682	1.00[CHB][hapmap]
rs4899144	1.00[CHB][hapmap]
rs4899145	1.00[CHB][hapmap]
rs4902309	1.00[CHB][hapmap]
rs4902310	1.00[CHB][hapmap]
rs4902312	1.00[CHB][hapmap]
rs7141792	1.00[CHB][hapmap]
rs7157684	1.00[CHB][hapmap]
rs7158780	1.00[CHB][hapmap]
rs8003047	1.00[JPT][hapmap]
rs911002	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

No data

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	chr14:65235600-65236400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:65235600-65236400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:65235600-65237400	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr14:65235600-65239800	Strong transcription	Brain Germinal Matrix	brain
29	chr14:65235800-65236400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:65236000-65237400	Weak transcription	Fetal Brain Female	brain
31	chr14:65236000-65239400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:65236000-65239600	Weak transcription	Fetal Heart	heart
33	chr14:65236200-65239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:65236200-65239600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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