Variant report

Variant	rs5754282
Chromosome Location	chr22:33176834-33176835
allele	A/C
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	MYBL2	chr22:33175634-33176938	HepG2	liver:	n/a	n/a
2	TEAD4	chr22:33175736-33176946	HepG2	liver:	n/a	n/a
3	HDAC2	chr22:33176234-33176907	HepG2	liver:	n/a	n/a
4	FOXA1	chr22:33176248-33176864	HepG2	liver:	n/a	n/a
5	ZEB1	chr22:33175582-33176933	HepG2	liver:	n/a	chr22:33176459-33176471
6	MYBL2	chr22:33175965-33176850	HepG2	liver:	n/a	n/a
7	FOXA1	chr22:33176097-33176874	HepG2	liver:	n/a	n/a
8	RAD21	chr22:33176248-33176865	HepG2	liver:	n/a	chr22:33176387-33176396
9	MBD4	chr22:33176343-33176897	HepG2	liver:	n/a	n/a
10	CREB1	chr22:33176056-33176873	HepG2	liver:	n/a	n/a
11	MAZ	chr22:33176247-33176864	HepG2	liver:	n/a	n/a
12	NFIC	chr22:33176032-33176845	HepG2	liver:	n/a	n/a
13	ZEB1	chr22:33176052-33176886	HepG2	liver:	n/a	chr22:33176459-33176471
14	NFIC	chr22:33176100-33176877	HepG2	liver:	n/a	n/a
15	CREB1	chr22:33175647-33176915	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:33176651-33177027	SK-N-MC	brain:	n/a	n/a
17	FOXA1	chr22:33175983-33176884	HepG2	liver:	n/a	n/a
18	SP1	chr22:33176082-33176883	HepG2	liver:	n/a	n/a
19	HNF4A	chr22:33176313-33176854	HepG2	liver:	n/a	chr22:33176584-33176599
20	EP300	chr22:33175546-33176900	HepG2	liver:	n/a	chr22:33176254-33176270
21	MBD4	chr22:33176104-33176853	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33168456-33177374	H1-hESC	embryonic stem cell:	embryo
2	chr22:33171964..33174469-chr22:33174986..33177148,3	MCF-7	breast:
3	22:32740683-32750950..22:33168456-33177374	K562	blood:

Variant related genes	Relation type
ENSG00000229673	TF binding region
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2413156	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5749509	0.82[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs5754281	0.86[ASW][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs5754283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6518796	0.82[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6518797	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][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	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs5754282	SEC14L4	cis	parietal	SCAN
rs5754282	RNF185	cis	parietal	SCAN
rs5754282	SLC5A1	cis	cerebellum	SCAN
rs5754282	SEC14L2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
6	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:33175600-33177600	Enhancers	Placenta	Placenta
8	chr22:33175800-33177400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
10	chr22:33176200-33177400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr22:33176400-33177400	Enhancers	Liver	Liver
12	chr22:33176400-33177400	Weak transcription	Right Atrium	heart
13	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:33176600-33177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:33176600-33181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:33176800-33181800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:33176800-33182800	Enhancers	HepG2	liver
19	chr22:33176800-33185200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:33176800-33191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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