Variant report

Variant	rs72770683
Chromosome Location	chr5:58339046-58339047
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	MAX	chr5:58337966-58339092	A549	lung:	n/a	n/a
2	MAX	chr5:58333100-58339130	A549	lung:	n/a	chr5:58336788-58336797 chr5:58336783-58336802 chr5:58336206-58336221 chr5:58336787-58336798 chr5:58337561-58337571 chr5:58337236-58337245 chr5:58336786-58336799 chr5:58336788-58336798 chr5:58336788-58336798 chr5:58336791-58336799 chr5:58336206-58336216 chr5:58336787-58336798
3	SIX5	chr5:58337263-58339081	A549	lung:	n/a	n/a
4	TCF12	chr5:58337764-58339073	A549	lung:	n/a	n/a
5	POLR2A	chr5:58338917-58339221	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10514871	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1498602	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1498607	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1498609	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17720311	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17776777	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17776825	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279737	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55946132	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55970459	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56057207	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62358506	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336000-58343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
3	chr5:58336600-58342000	Weak transcription	Pancreas	Pancrea
4	chr5:58336600-58348000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58336600-58351800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:58336600-58358000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:58336600-58358000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:58337400-58339200	Enhancers	Psoas Muscle	Psoas
9	chr5:58337400-58339200	Enhancers	HSMM	muscle
10	chr5:58337400-58359000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:58338200-58339200	Genic enhancers	Hela-S3	cervix
12	chr5:58338200-58347600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58338400-58350200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:58338800-58339200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:58338800-58342600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58338800-58351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:58338800-58359200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:58338800-58362000	Weak transcription	Gastric	stomach
19	chr5:58339000-58340200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:58339000-58340200	Weak transcription	A549	lung
21	chr5:58339000-58340800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:58339000-58345000	Weak transcription	Fetal Lung	lung
23	chr5:58339000-58351600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:58339000-58365200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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