Variant report

Variant	rs73391316
Chromosome Location	chr15:40527349-40527350
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	SPI1	chr15:40527345-40527884	HL-60	blood:	n/a	chr15:40527564-40527577 chr15:40527567-40527576 chr15:40527678-40527687 chr15:40527591-40527604
2	MAFK	chr15:40527078-40527414	K562	blood:	n/a	n/a
3	MAFF	chr15:40527067-40527410	K562	blood:	n/a	chr15:40527224-40527242
4	POLR2A	chr15:40526936-40528154	SK-N-MC	brain:	n/a	n/a
5	FOS	chr15:40527074-40527399	MCF10A-Er-Src	breast:	n/a	n/a
6	BACH1	chr15:40527082-40527400	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr15:40527168-40527358	K562	blood:	n/a	n/a
8	FOS	chr15:40527072-40527369	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:40527023-40527372	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr15:40527200-40527377	K562	blood:	n/a	n/a
11	MAFK	chr15:40527106-40527350	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr15:40527249-40527538	K562	blood:	n/a	n/a
13	RUNX3	chr15:40527046-40527383	GM12878	blood:	n/a	n/a
14	MAX	chr15:40527238-40528025	NB4	blood:	n/a	n/a
15	JUND	chr15:40527064-40527402	K562	blood:	n/a	n/a
16	EBF1	chr15:40527060-40527476	GM12878	blood:	n/a	chr15:40527245-40527256
17	SPI1	chr15:40526974-40527933	HL-60	blood:	n/a	chr15:40527564-40527577 chr15:40527567-40527576 chr15:40527678-40527687 chr15:40527591-40527604

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40526580..40529009-chr15:40601249..40602782,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BUB1B-1	chr15:40525645-40528308	ENSG00000260648.1
2	lnc-BUB1B-1	chr15:40524283-40528308	ENSG00000260648.2

Variant related genes	Relation type
PAK6	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11070254	0.87[AMR][1000 genomes]
rs12385956	0.87[AMR][1000 genomes]
rs13380113	0.87[AMR][1000 genomes]
rs28390245	0.87[AMR][1000 genomes]
rs28417868	0.87[AMR][1000 genomes]
rs28418337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28485685	1.00[AMR][1000 genomes]
rs28526743	0.87[AMR][1000 genomes]
rs28561898	1.00[AMR][1000 genomes]
rs28565228	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28606396	1.00[AMR][1000 genomes]
rs28637656	1.00[AMR][1000 genomes]
rs28668026	0.87[AMR][1000 genomes]
rs28673302	1.00[AMR][1000 genomes]
rs28744626	0.87[AMR][1000 genomes]
rs28869227	0.87[AMR][1000 genomes]
rs57537959	0.99[AFR][1000 genomes]
rs58355728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60743501	1.00[AMR][1000 genomes]
rs7168394	1.00[AMR][1000 genomes]
rs73377835	0.87[AMR][1000 genomes]
rs73389489	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389492	1.00[AMR][1000 genomes]
rs73389507	0.87[AMR][1000 genomes]
rs73389520	0.87[AMR][1000 genomes]
rs73389531	1.00[AMR][1000 genomes]
rs73389536	0.87[AMR][1000 genomes]
rs73389540	1.00[AMR][1000 genomes]
rs73390146	1.00[AMR][1000 genomes]
rs73390155	0.87[AMR][1000 genomes]
rs73390167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390168	0.87[AMR][1000 genomes]
rs73391309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806126	0.87[AMR][1000 genomes]
rs9806144	0.87[AMR][1000 genomes]

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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
2	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
3	chr15:40485400-40527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40492800-40530800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:40513200-40531200	Weak transcription	NHDF-Ad	bronchial
6	chr15:40513400-40530800	Weak transcription	A549	lung
7	chr15:40515400-40530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:40516200-40530600	Weak transcription	Fetal Intestine Large	intestine
9	chr15:40517200-40530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:40518200-40528600	Weak transcription	HUVEC	blood vessel
11	chr15:40519400-40529000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr15:40522200-40528800	Weak transcription	NHLF	lung
13	chr15:40522200-40530000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:40522400-40528600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:40522400-40528800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:40522400-40530400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:40522400-40530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:40522400-40531800	Weak transcription	Gastric	stomach
19	chr15:40523600-40530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40523800-40528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:40524000-40529200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:40524200-40528000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:40524200-40528200	Enhancers	HMEC	breast
24	chr15:40524200-40528600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:40524400-40527800	Enhancers	K562	blood
26	chr15:40524400-40528200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:40524400-40530800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:40524600-40527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:40524600-40528000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:40524600-40528400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:40525200-40529200	Weak transcription	NH-A	brain
32	chr15:40525200-40530400	Weak transcription	Fetal Intestine Small	intestine
33	chr15:40525200-40530400	Weak transcription	Lung	lung
34	chr15:40525200-40530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:40525200-40531000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:40525200-40531200	Weak transcription	Right Atrium	heart
37	chr15:40525400-40530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:40525400-40531200	Weak transcription	Adipose Nuclei	Adipose
39	chr15:40525800-40527600	Enhancers	Placenta	Placenta
40	chr15:40526000-40527400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:40526000-40528000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr15:40526200-40527400	Enhancers	HSMMtube	muscle
43	chr15:40526200-40527600	Enhancers	HSMM	muscle
44	chr15:40526200-40528000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:40526200-40530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:40526400-40527400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr15:40526400-40528000	Enhancers	GM12878-XiMat	blood
48	chr15:40526600-40527400	Enhancers	Brain Hippocampus Middle	brain
49	chr15:40526600-40528200	Enhancers	Primary B cells from cord blood	blood
50	chr15:40526600-40529600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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