Variant report

Variant	rs285448
Chromosome Location	chr1:165512140-165512141
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	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	FOXA1	chr1:165511913-165512183	T-47D	breast:	n/a	chr1:165512098-165512110 chr1:165512036-165512051
3	MAFF	chr1:165511447-165512192	K562	blood:	n/a	chr1:165512090-165512104 chr1:165511657-165511675
4	MAFK	chr1:165512054-165512240	H1-hESC	embryonic stem cell:	n/a	chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104
5	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
6	MAFK	chr1:165511995-165512141	Hela-S3	cervix:	n/a	chr1:165512053-165512067 chr1:165512050-165512066 chr1:165512054-165512065 chr1:165512089-165512105 chr1:165512090-165512104
7	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
8	BACH1	chr1:165512041-165512142	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXA1	chr1:165511915-165512177	T-47D	breast:	n/a	chr1:165512098-165512110 chr1:165512036-165512051
10	MAFF	chr1:165511441-165512246	HepG2	liver:	n/a	chr1:165512090-165512104 chr1:165511657-165511675
11	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

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs172258	0.85[YRI][hapmap]
rs172259	0.93[AFR][1000 genomes]
rs176231	0.93[AFR][1000 genomes]
rs190799	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433139	0.90[AFR][1000 genomes]
rs2478256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2478263	0.88[AFR][1000 genomes]
rs2485407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285465	0.93[AFR][1000 genomes]
rs285466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs285477	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs406878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs437919	1.00[EUR][1000 genomes]
rs454544	1.00[EUR][1000 genomes]

No data

Chromatin state (count:26 , 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	chr1:165510200-165513000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:165510400-165512400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:165510400-165512800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:165510400-165512800	Weak transcription	Placenta	Placenta
7	chr1:165510400-165512800	Weak transcription	Right Atrium	heart
8	chr1:165510400-165512800	Weak transcription	Right Ventricle	heart
9	chr1:165510400-165513000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:165510600-165512800	Weak transcription	Left Ventricle	heart
11	chr1:165510600-165512800	Weak transcription	Psoas Muscle	Psoas
12	chr1:165510600-165513000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:165511000-165512800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:165511200-165512800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:165511400-165512200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:165511400-165512800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:165511400-165513800	Enhancers	Fetal Lung	lung
18	chr1:165511400-165514200	Enhancers	Fetal Heart	heart
19	chr1:165511800-165512800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:165511800-165512800	Weak transcription	Fetal Kidney	kidney
21	chr1:165511800-165512800	Weak transcription	Gastric	stomach
22	chr1:165511800-165513000	Enhancers	Fetal Stomach	stomach
23	chr1:165512000-165512200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:165512000-165512400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:165512000-165512400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:165512000-165512800	Weak transcription	Stomach Mucosa	stomach

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