Variant report

Variant	rs73463038
Chromosome Location	chr15:78832025-78832026
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78832021-78833457	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:78831906-78832393	K562	blood:	n/a	n/a
3	POLR2A	chr15:78830840-78834174	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:78831151-78834112	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:78830693-78835554	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:78831504-78834721	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:78831753-78833808	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:78831941-78833534	GM12891	blood:	n/a	n/a
9	POLR2A	chr15:78831936-78833626	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:78831832-78833671	Raji	blood:	n/a	n/a
11	POLR2A	chr15:78831991-78833627	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:78831880-78832031	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:78831815-78833835	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr15:78831928-78834162	PANC-1	pancreas:	n/a	n/a
15	HCFC1	chr15:78831559-78834951	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:78831547-78834072	GM12878	blood:	n/a	n/a
17	JUND	chr15:78831838-78832038	HepG2	liver:	n/a	chr15:78832009-78832020

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78831297..78836398-chr15:78856605..78860226,12	MCF-7	breast:
2	chr15:78797464..78804546-chr15:78829529..78835433,12	MCF-7	breast:
3	chr15:78829726..78832334-chr15:78857099..78858875,2	K562	blood:
4	chr15:78798809..78800718-chr15:78830322..78833228,2	K562	blood:
5	chr15:78831312..78834277-chr15:78872379..78875019,2	MCF-7	breast:
6	chr15:78798844..78801827-chr15:78830907..78834394,5	MCF-7	breast:
7	chr15:78803621..78806940-chr15:78831151..78833237,3	K562	blood:
8	chr15:78831864..78834406-chr17:59476584..59478636,2	MCF-7	breast:
9	chr15:78798048..78801609-chr15:78828919..78833228,5	K562	blood:
10	chr13:50571059..50571582-chr15:78831795..78832694,2	Hela-S3	cervix:
11	chr1:144533622..144534312-chr15:78831795..78832702,2	Hela-S3	cervix:
12	chr15:78829726..78834442-chr15:78855710..78860360,8	K562	blood:

No data

Variant related genes	Relation type
PSMA4	TF binding region
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000188266	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000169684	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11854548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969922	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969931	1.00[AMR][1000 genomes]
rs1878398	1.00[AMR][1000 genomes]
rs4380026	1.00[AMR][1000 genomes]
rs56928863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56976898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59180001	1.00[AMR][1000 genomes]
rs61545548	0.98[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463050	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463060	1.00[AMR][1000 genomes]
rs9672189	0.86[AFR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78800800-78832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:78800800-78832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:78800800-78832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:78801000-78832200	Weak transcription	Adipose Nuclei	Adipose
5	chr15:78801000-78832200	Weak transcription	Fetal Kidney	kidney
6	chr15:78801000-78832200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:78801000-78832200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:78801000-78832200	Weak transcription	A549	lung
9	chr15:78803000-78832200	Weak transcription	Primary T cells from cord blood	blood
10	chr15:78810600-78832400	Weak transcription	Aorta	Aorta
11	chr15:78810800-78832200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:78812000-78832200	Weak transcription	Fetal Stomach	stomach
13	chr15:78812400-78832200	Weak transcription	Fetal Intestine Large	intestine
14	chr15:78812600-78832200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr15:78816600-78832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:78817000-78832200	Weak transcription	Fetal Intestine Small	intestine
17	chr15:78821200-78832200	Weak transcription	Left Ventricle	heart
18	chr15:78821200-78832400	Weak transcription	Ovary	ovary
19	chr15:78821400-78832200	Weak transcription	Liver	Liver
20	chr15:78826000-78832200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:78826000-78832200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:78826200-78832200	Weak transcription	Brain Anterior Caudate	brain
23	chr15:78826200-78832200	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:78828800-78832400	Enhancers	Fetal Heart	heart
25	chr15:78829400-78832200	Weak transcription	GM12878-XiMat	blood
26	chr15:78830800-78832200	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:78831400-78832200	Weak transcription	Right Ventricle	heart
28	chr15:78831400-78832200	Weak transcription	K562	blood
29	chr15:78831600-78832200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:78831800-78832200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr15:78831800-78832200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:78832000-78832200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:78832000-78832200	Active TSS	Primary B cells from cord blood	blood
34	chr15:78832000-78832200	Enhancers	Primary B cells from peripheral blood	blood
35	chr15:78832000-78832200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:78832000-78832200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr15:78832000-78832200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr15:78832000-78832200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr15:78832000-78832200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr15:78832000-78832200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:78832000-78832200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:78832000-78832200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:78832000-78832200	Enhancers	Fetal Muscle Trunk	muscle
44	chr15:78832000-78832200	Enhancers	Placenta	Placenta
45	chr15:78832000-78832200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:78832000-78832200	Enhancers	Dnd41	blood
47	chr15:78832000-78832200	Active TSS	HepG2	liver
48	chr15:78832000-78832200	Enhancers	NH-A	brain
49	chr15:78832000-78832200	Enhancers	NHEK	skin
50	chr15:78832000-78832200	Active TSS	Osteobl	bone

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