Variant report

Variant	rs72769729
Chromosome Location	chr5:58882329-58882330
allele	C/T
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	BCL3	chr5:58881696-58883028	A549	lung:	n/a	n/a
2	TCF12	chr5:58881962-58885264	A549	lung:	n/a	n/a
3	SP1	chr5:58881859-58884538	A549	lung:	n/a	n/a

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1035321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491440	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491441	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491442	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10514859	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11950308	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951110	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11956402	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11957151	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12520633	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12521279	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16890013	0.95[ASN][1000 genomes]
rs16890021	0.95[ASN][1000 genomes]
rs17439074	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17741863	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17797996	0.85[EUR][1000 genomes]
rs17798319	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36081664	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62355561	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62355562	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62355581	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62355582	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62355584	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62357524	0.85[EUR][1000 genomes]
rs62357525	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62357527	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62357530	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62372240	0.81[EUR][1000 genomes]
rs72769726	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs893190	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953302	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58859200-58883400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58878400-58882600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:58878800-58888200	Active TSS	Psoas Muscle	Psoas
5	chr5:58879000-58882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:58879000-58882800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:58879000-58884200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:58879200-58883800	Active TSS	Fetal Brain Female	brain
9	chr5:58879200-58884800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr5:58879200-58885000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:58879400-58884000	Active TSS	Brain Substantia Nigra	brain
12	chr5:58879600-58882600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58879600-58882600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:58879600-58883200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:58879600-58883800	Active TSS	Stomach Mucosa	stomach
16	chr5:58879600-58884200	Active TSS	Colonic Mucosa	Colon
17	chr5:58879600-58884400	Active TSS	Brain Angular Gyrus	brain
18	chr5:58879800-58883200	Weak transcription	Fetal Thymus	thymus
19	chr5:58879800-58883200	Weak transcription	Gastric	stomach
20	chr5:58879800-58883600	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:58880000-58882600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:58880000-58882600	Weak transcription	Fetal Stomach	stomach
23	chr5:58880000-58883200	Weak transcription	Aorta	Aorta
24	chr5:58880000-58883200	Weak transcription	Liver	Liver
25	chr5:58880000-58884000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr5:58880000-58884000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:58880000-58884400	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:58880200-58882600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:58880200-58882600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:58880200-58883000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:58880400-58882600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:58880400-58882600	Weak transcription	Small Intestine	intestine
33	chr5:58880400-58882800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:58880400-58883400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:58880400-58883600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:58880400-58883600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:58880400-58883800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:58880400-58883800	Active TSS	Fetal Kidney	kidney
39	chr5:58880400-58884000	Active TSS	Brain Anterior Caudate	brain
40	chr5:58880800-58882800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:58880800-58883200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:58881000-58883200	Active TSS	Fetal Brain Male	brain
43	chr5:58881200-58882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:58881200-58883200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:58881200-58883800	Active TSS	Brain Hippocampus Middle	brain
46	chr5:58881400-58882400	Active TSS	Brain Germinal Matrix	brain
47	chr5:58881400-58882400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:58881600-58882400	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:58881600-58882400	Enhancers	Fetal Intestine Small	intestine
50	chr5:58881600-58882400	Weak transcription	Hela-S3	cervix

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