Variant report

Variant	rs11623010
Chromosome Location	chr14:65234100-65234101
allele	A/G
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	chr14:65234100-65234298	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:
2	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11622977	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623016	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17102053	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180217	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229597	0.97[EUR][1000 genomes]
rs45457295	0.97[EUR][1000 genomes]
rs56181906	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141792	0.97[EUR][1000 genomes]
rs7142689	0.97[EUR][1000 genomes]
rs7154518	1.00[ASN][1000 genomes]
rs7157344	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157527	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157684	0.97[EUR][1000 genomes]
rs7158780	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3356966	chr14:65230599-65234897	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:65229600-65234400	Weak transcription	Fetal Brain Female	brain
4	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
5	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65231600-65235600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:65231600-65235800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:65231600-65237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
10	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
16	chr14:65232200-65235400	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:65232200-65237200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:65232200-65274200	Weak transcription	Gastric	stomach
21	chr14:65232400-65237800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:65232600-65237400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:65232600-65242600	Strong transcription	K562	blood
24	chr14:65233000-65235800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:65233000-65235800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:65233000-65237000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
28	chr14:65233200-65234400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr14:65233200-65234400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:65233200-65234600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:65233200-65235600	Weak transcription	Fetal Heart	heart
32	chr14:65233200-65236000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:65233400-65235600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:65233400-65236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:65233600-65234200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:65233600-65234200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:65233600-65234400	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr14:65233600-65234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:65233600-65237400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
41	chr14:65233800-65234400	Weak transcription	Esophagus	oesophagus
42	chr14:65234000-65234200	Bivalent Enhancer	HepG2	liver
43	chr14:65234000-65234800	Enhancers	Spleen	Spleen
44	chr14:65234000-65235600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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