Variant report

Variant	rs74120732
Chromosome Location	chr1:165511745-165511746
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	MAFK	chr1:165511461-165512220	HepG2	liver:	n/a	chr1:165511663-165511674 chr1:165512053-165512067 chr1:165511658-165511674 chr1:165512050-165512066 chr1:165511663-165511674 chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673
2	MAFF	chr1:165511447-165512192	K562	blood:	n/a	chr1:165512090-165512104 chr1:165511657-165511675
3	MAFK	chr1:165511475-165512219	IMR90	lung:	n/a	chr1:165511663-165511674 chr1:165512053-165512067 chr1:165511658-165511674 chr1:165512050-165512066 chr1:165511663-165511674 chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673
4	RFX5	chr1:165511558-165511806	HepG2	liver:	n/a	n/a
5	MAFK	chr1:165511485-165512205	K562	blood:	n/a	chr1:165511663-165511674 chr1:165512053-165512067 chr1:165511658-165511674 chr1:165512050-165512066 chr1:165511663-165511674 chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673
6	MAFF	chr1:165511441-165512246	HepG2	liver:	n/a	chr1:165512090-165512104 chr1:165511657-165511675
7	MAFK	chr1:165511498-165511842	H1-hESC	embryonic stem cell:	n/a	chr1:165511663-165511674 chr1:165511658-165511674 chr1:165511663-165511674 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673
8	MAFK	chr1:165511474-165512268	HepG2	liver:	n/a	chr1:165511663-165511674 chr1:165512053-165512067 chr1:165511658-165511674 chr1:165512050-165512066 chr1:165511663-165511674 chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673
9	MAFK	chr1:165511523-165511749	Hela-S3	cervix:	n/a	chr1:165511663-165511674 chr1:165511658-165511674 chr1:165511663-165511674 chr1:165511658-165511673 chr1:165511661-165511675 chr1:165511662-165511673

Variant related genes	Relation type
LRRC52	TF binding region
ENSG00000237463	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs57131010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58101983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120705	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120707	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120708	1.00[AMR][1000 genomes]
rs74120733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120749	1.00[AMR][1000 genomes]
rs74120751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165505600-165513000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:165507600-165512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:165509800-165511800	Weak transcription	Fetal Stomach	stomach
4	chr1:165510200-165513000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:165510400-165512400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:165510400-165512800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:165510400-165512800	Weak transcription	Placenta	Placenta
8	chr1:165510400-165512800	Weak transcription	Right Atrium	heart
9	chr1:165510400-165512800	Weak transcription	Right Ventricle	heart
10	chr1:165510400-165513000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:165510600-165512000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:165510600-165512800	Weak transcription	Left Ventricle	heart
13	chr1:165510600-165512800	Weak transcription	Psoas Muscle	Psoas
14	chr1:165510600-165513000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:165511000-165512800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:165511200-165512800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:165511400-165511800	Enhancers	Fetal Kidney	kidney
18	chr1:165511400-165511800	Enhancers	Gastric	stomach
19	chr1:165511400-165511800	Enhancers	HepG2	liver
20	chr1:165511400-165512000	Enhancers	Stomach Mucosa	stomach
21	chr1:165511400-165512200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:165511400-165512800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:165511400-165513800	Enhancers	Fetal Lung	lung
24	chr1:165511400-165514200	Enhancers	Fetal Heart	heart
25	chr1:165511600-165511800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:165511600-165512000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:165511600-165512000	Active TSS	Pancreatic Islets	Pancreatic Islet

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