Variant report

Variant	rs72790592
Chromosome Location	chr5:108389910-108389911
allele	A/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	BATF	chr5:108389711-108390028	GM12878	blood:	n/a	n/a
2	SPI1	chr5:108389754-108390212	GM12878	blood:	n/a	n/a
3	EP300	chr5:108389790-108390152	GM12878	blood:	n/a	n/a
4	CTCF	chr5:108389760-108389910	HRPEpiC	eye:	n/a	n/a
5	EBF1	chr5:108389652-108390128	GM12878	blood:	n/a	chr5:108389833-108389844
6	EP300	chr5:108389672-108390172	GM12878	blood:	n/a	n/a
7	STAT3	chr5:108389861-108390115	GM12878	blood:	n/a	n/a
8	ELK1	chr5:108389858-108390043	GM12878	blood:	n/a	n/a
9	SPI1	chr5:108389761-108390189	GM12891	blood:	n/a	n/a
10	IRF4	chr5:108389732-108390242	GM12878	blood:	n/a	n/a
11	IRF4	chr5:108389669-108390193	GM12878	blood:	n/a	n/a
12	EBF1	chr5:108389680-108389992	GM12878	blood:	n/a	chr5:108389833-108389844
13	ATF2	chr5:108389810-108390184	GM12878	blood:	n/a	n/a
14	SPI1	chr5:108389750-108390185	GM12891	blood:	n/a	n/a
15	JUND	chr5:108389614-108390046	SK-N-SH	brain:	n/a	n/a
16	EP300	chr5:108389708-108390148	GM12878	blood:	n/a	n/a
17	SPI1	chr5:108389520-108390188	GM12878	blood:	n/a	n/a
18	ZNF143	chr5:108389849-108390050	GM12878	blood:	n/a	n/a
19	TCF12	chr5:108389590-108390092	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr5:108389467-108390100	SK-N-SH	brain:	n/a	n/a
21	BCL11A	chr5:108389786-108390095	GM12878	blood:	n/a	n/a
22	SPI1	chr5:108389843-108390101	GM12878	blood:	n/a	n/a
23	TBL1XR1	chr5:108389771-108390087	GM12878	blood:	n/a	n/a
24	CUX1	chr5:108389712-108390123	GM12878	blood:	n/a	n/a
25	BATF	chr5:108389666-108389978	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GJA1P1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs72787097	0.81[EUR][1000 genomes]
rs72790588	0.91[EUR][1000 genomes]
rs72790594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72790601	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72792503	0.81[AFR][1000 genomes]
rs72792514	1.00[AFR][1000 genomes]
rs72792515	1.00[AFR][1000 genomes]
rs72792522	0.83[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	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108356000-108399000	Weak transcription	HSMM	muscle
3	chr5:108360400-108400400	Weak transcription	NHEK	skin
4	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
6	chr5:108374800-108390000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:108376000-108390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:108386200-108390000	Weak transcription	NHDF-Ad	bronchial
12	chr5:108386200-108390400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:108386400-108390000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:108387600-108395200	Weak transcription	Fetal Stomach	stomach
15	chr5:108387800-108394800	Weak transcription	Left Ventricle	heart
16	chr5:108388000-108390400	Weak transcription	Fetal Lung	lung
17	chr5:108388000-108396600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:108388000-108401200	Weak transcription	Gastric	stomach
19	chr5:108388200-108390200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:108388200-108390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:108388200-108391200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:108388200-108391400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:108388200-108391400	Weak transcription	Dnd41	blood
24	chr5:108388200-108391800	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:108388200-108393200	Weak transcription	Pancreas	Pancrea
26	chr5:108388200-108396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:108388200-108401800	Weak transcription	Ovary	ovary
28	chr5:108388400-108390000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:108388400-108390400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:108388400-108391800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:108388400-108392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:108388800-108396600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:108388800-108397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:108388800-108412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:108389000-108396200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:108389400-108390400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:108389800-108390000	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:108389800-108390000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr5:108389800-108390200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:108389800-108390200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:108389800-108390200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:108389800-108390200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:108389800-108390200	Enhancers	Stomach Smooth Muscle	stomach
44	chr5:108389800-108390600	Enhancers	Osteobl	bone
45	chr5:108389800-108392200	Enhancers	Fetal Heart	heart

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