Variant report

Variant	rs34268290
Chromosome Location	chr15:40532517-40532518
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	FOS	chr15:40532500-40532793	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr15:40530884-40532856	MCF10A-Er-Src	breast:	n/a	chr15:40532394-40532403 chr15:40532596-40532606 chr15:40531232-40531241 chr15:40532599-40532609
3	STAT3	chr15:40532515-40532771	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr15:40532454-40532761	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr15:40532380-40532530	HMEC	breast:	n/a	n/a
6	STAT3	chr15:40532420-40532622	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PAK6	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6492943	1.00[AMR][1000 genomes]
rs7168197	1.00[AMR][1000 genomes]
rs73383129	1.00[AMR][1000 genomes]
rs73385108	1.00[AMR][1000 genomes]
rs73385110	1.00[AMR][1000 genomes]
rs73385112	1.00[AMR][1000 genomes]
rs8023956	1.00[AMR][1000 genomes]
rs8039298	1.00[AMR][1000 genomes]
rs9672893	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40530600-40533000	Enhancers	Fetal Brain Male	brain
2	chr15:40530600-40534000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:40530600-40534000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr15:40530800-40532600	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr15:40530800-40534400	Flanking Active TSS	HMEC	breast
6	chr15:40531200-40533400	Active TSS	Brain Anterior Caudate	brain
7	chr15:40531200-40533600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:40531400-40533000	Active TSS	Brain Angular Gyrus	brain
9	chr15:40531600-40532600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:40531600-40533400	Active TSS	Esophagus	oesophagus
11	chr15:40531800-40532600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:40531800-40532600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr15:40531800-40532600	Flanking Active TSS	NHEK	skin
14	chr15:40531800-40533000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:40531800-40533200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr15:40531800-40533200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:40531800-40533400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:40531800-40534000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:40531800-40534400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40531800-40535000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:40531800-40542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:40532000-40532600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr15:40532000-40532600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:40532000-40532600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:40532000-40532800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:40532000-40532800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:40532000-40532800	Active TSS	Brain Cingulate Gyrus	brain
28	chr15:40532000-40532800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr15:40532000-40532800	Enhancers	Fetal Thymus	thymus
30	chr15:40532000-40533000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:40532000-40533000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
32	chr15:40532000-40533000	Enhancers	Placenta	Placenta
33	chr15:40532000-40533000	Weak transcription	HSMM	muscle
34	chr15:40532000-40534600	Weak transcription	K562	blood
35	chr15:40532000-40537000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:40532000-40537000	Weak transcription	Pancreas	Pancrea
37	chr15:40532200-40532600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr15:40532200-40532600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:40532200-40532600	Enhancers	Hela-S3	cervix
40	chr15:40532200-40533600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:40532200-40537000	Weak transcription	Fetal Lung	lung
42	chr15:40532200-40537200	Weak transcription	Gastric	stomach
43	chr15:40532200-40537400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:40532400-40532600	Active TSS	Fetal Brain Female	brain
45	chr15:40532400-40532800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr15:40532400-40532800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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