Variant report

Variant	rs73463050
Chromosome Location	chr15:78835071-78835072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78830693-78835554	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:78834618-78836610	K562	blood:	n/a	n/a
3	STAT3	chr15:78835059-78835524	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:78831297..78836398-chr15:78856605..78860226,12	MCF-7	breast:
2	chr15:78832604..78836535-chr15:78856473..78859290,6	MCF-7	breast:
3	chr15:78797464..78804546-chr15:78829529..78835433,12	MCF-7	breast:
4	chr15:78834135..78835818-chr15:78847148..78849543,3	K562	blood:
5	chr15:78729933..78731610-chr15:78832734..78835693,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMA4	TF binding region
ENSG00000188266	Chromatin interaction
ENSG00000169684	Chromatin interaction
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11854548	1.00[AMR][1000 genomes]
rs16969922	1.00[AMR][1000 genomes]
rs16969931	1.00[AMR][1000 genomes]
rs1878398	1.00[AMR][1000 genomes]
rs4380026	1.00[AMR][1000 genomes]
rs56928863	1.00[AMR][1000 genomes]
rs56976898	1.00[AMR][1000 genomes]
rs59180001	1.00[AMR][1000 genomes]
rs61545548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165657	1.00[AMR][1000 genomes]
rs7166003	1.00[AMR][1000 genomes]
rs7174019	1.00[AMR][1000 genomes]
rs73463030	1.00[AMR][1000 genomes]
rs73463038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463040	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463060	0.81[AFR][1000 genomes];1.00[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78833600-78838400	Weak transcription	Spleen	Spleen
2	chr15:78833800-78835200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:78833800-78835400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78833800-78835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:78833800-78837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:78833800-78838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:78833800-78838000	Weak transcription	Esophagus	oesophagus
8	chr15:78833800-78838000	Weak transcription	Gastric	stomach
9	chr15:78833800-78838400	Weak transcription	Pancreas	Pancrea
10	chr15:78834000-78835600	Weak transcription	Aorta	Aorta
11	chr15:78834000-78837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:78834000-78838000	Weak transcription	Small Intestine	intestine
13	chr15:78834200-78835200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:78834200-78835200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:78834200-78835200	Enhancers	Fetal Heart	heart
16	chr15:78834200-78835400	Weak transcription	Fetal Intestine Small	intestine
17	chr15:78834200-78835600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr15:78834200-78835600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr15:78834200-78835800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:78834200-78835800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:78834200-78837400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:78834200-78841200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:78834200-78843400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:78834200-78843400	Strong transcription	Placenta	Placenta
25	chr15:78834200-78845000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:78834400-78835200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:78834400-78835400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr15:78834400-78835400	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr15:78834400-78835600	Genic enhancers	Primary T cells from cord blood	blood
30	chr15:78834400-78835600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr15:78834400-78835600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:78834400-78835800	Genic enhancers	Liver	Liver
33	chr15:78834400-78835800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr15:78834400-78836800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:78834400-78837000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:78834400-78837000	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:78834400-78837000	Weak transcription	Stomach Mucosa	stomach
38	chr15:78834400-78837600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:78834400-78843600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:78834400-78843600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:78834400-78843800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:78834400-78843800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr15:78834600-78835200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr15:78834600-78835200	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr15:78834600-78835200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr15:78834600-78835400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr15:78834600-78835400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr15:78834600-78835400	Strong transcription	K562	blood
49	chr15:78834600-78835600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:78834600-78835600	Genic enhancers	Duodenum Smooth Muscle	Duodenum

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