Variant report

Variant	rs73313552
Chromosome Location	chr5:124533010-124533011
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	EP300	chr5:124531398-124537746	SK-N-SH	brain:	n/a	chr5:124536483-124536499 chr5:124535688-124535702 chr5:124535812-124535825 chr5:124535631-124535645
2	RFX5	chr5:124531926-124537313	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000248631	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55708367	1.00[AMR][1000 genomes]
rs6867985	1.00[AMR][1000 genomes]
rs73297729	1.00[AMR][1000 genomes]
rs7701316	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124526600-124536000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:124526800-124536000	Weak transcription	Right Atrium	heart
3	chr5:124526800-124536200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:124527400-124535200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:124531400-124536000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:124531600-124533200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:124531600-124535800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:124531600-124536000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:124531600-124536200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:124531800-124535000	Enhancers	Fetal Lung	lung
11	chr5:124531800-124536000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:124532000-124533200	Enhancers	Duodenum Mucosa	Duodenum
13	chr5:124532000-124533200	Enhancers	Fetal Intestine Large	intestine
14	chr5:124532000-124534000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:124532000-124534800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:124532000-124535600	Enhancers	Brain Germinal Matrix	brain
17	chr5:124532000-124536000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:124532200-124533200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:124532200-124533200	Enhancers	Brain Substantia Nigra	brain
20	chr5:124532200-124533200	Enhancers	Fetal Intestine Small	intestine
21	chr5:124532200-124536200	Enhancers	Fetal Stomach	stomach
22	chr5:124532400-124533200	Weak transcription	Small Intestine	intestine
23	chr5:124532400-124533400	Flanking Active TSS	Fetal Heart	heart
24	chr5:124532400-124533400	Enhancers	Fetal Kidney	kidney
25	chr5:124532400-124534000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:124532400-124536000	Enhancers	Colon Smooth Muscle	Colon
27	chr5:124532600-124533200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:124532600-124533800	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:124532600-124534000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:124532600-124534200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr5:124532600-124534200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:124532600-124534200	Weak transcription	HSMMtube	muscle
33	chr5:124532600-124535400	Enhancers	Brain Hippocampus Middle	brain
34	chr5:124532600-124536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:124532600-124536000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:124532600-124536200	Weak transcription	Psoas Muscle	Psoas
37	chr5:124532600-124536200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:124532600-124536200	Weak transcription	HSMM	muscle
39	chr5:124532800-124533800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:124532800-124534000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:124532800-124534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:124532800-124534000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:124532800-124534000	Weak transcription	Brain Anterior Caudate	brain
44	chr5:124532800-124534000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:124532800-124534200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:124532800-124534400	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:124532800-124534600	Enhancers	Brain Angular Gyrus	brain
48	chr5:124532800-124534800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr5:124532800-124535400	Enhancers	Brain Cingulate Gyrus	brain
50	chr5:124532800-124536000	Enhancers	Fetal Brain Female	brain

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