Variant report

Variant	rs61545548
Chromosome Location	chr15:78831471-78831472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78831361-78831838	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr15:78830840-78834174	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:78831151-78834112	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:78830693-78835554	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:78831408-78831578	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 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	chr15:78831006..78831743-chr20:62496014..62496899,2	Hela-S3	cervix:
5	chr15:78798809..78800718-chr15:78830322..78833228,2	K562	blood:
6	chr15:78831312..78834277-chr15:78872379..78875019,2	MCF-7	breast:
7	chr15:78798844..78801827-chr15:78830907..78834394,5	MCF-7	breast:
8	chr15:78803621..78806940-chr15:78831151..78833237,3	K562	blood:
9	chr15:78798048..78801609-chr15:78828919..78833228,5	K562	blood:
10	chr15:78829726..78834442-chr15:78855710..78860360,8	K562	blood:

No data

Variant related genes	Relation type
PSMA4	TF binding region
ENSG00000188266	Chromatin interaction
ENSG00000101150	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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969922	0.93[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56976898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59180001	1.00[AMR][1000 genomes]
rs7165657	1.00[AMR][1000 genomes]
rs7166003	1.00[AMR][1000 genomes]
rs7174019	1.00[AMR][1000 genomes]
rs73463030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463050	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73463060	1.00[AMR][1000 genomes]
rs9672189	0.88[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78800800-78832000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:78800800-78832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:78800800-78832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr15:78800800-78832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:78801000-78832200	Weak transcription	Adipose Nuclei	Adipose
6	chr15:78801000-78832200	Weak transcription	Fetal Kidney	kidney
7	chr15:78801000-78832200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:78801000-78832200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:78801000-78832200	Weak transcription	A549	lung
10	chr15:78803000-78832200	Weak transcription	Primary T cells from cord blood	blood
11	chr15:78810600-78832000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:78810600-78832400	Weak transcription	Aorta	Aorta
13	chr15:78810800-78832200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:78812000-78832200	Weak transcription	Fetal Stomach	stomach
15	chr15:78812400-78832200	Weak transcription	Fetal Intestine Large	intestine
16	chr15:78812600-78832200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:78816600-78832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:78817000-78832200	Weak transcription	Fetal Intestine Small	intestine
19	chr15:78821200-78832200	Weak transcription	Left Ventricle	heart
20	chr15:78821200-78832400	Weak transcription	Ovary	ovary
21	chr15:78821400-78832200	Weak transcription	Liver	Liver
22	chr15:78826000-78832200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:78826000-78832200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:78826200-78832200	Weak transcription	Brain Anterior Caudate	brain
25	chr15:78826200-78832200	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:78828800-78832400	Enhancers	Fetal Heart	heart
27	chr15:78829400-78832200	Weak transcription	GM12878-XiMat	blood
28	chr15:78830400-78832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:78830800-78832000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:78830800-78832200	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:78831400-78832200	Weak transcription	Right Ventricle	heart
32	chr15:78831400-78832200	Weak transcription	K562	blood

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