Variant report

Variant	rs5754281
Chromosome Location	chr22:33176766-33176767
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	chr22:33176336-33176806	HepG2	liver:	n/a	n/a
2	CEBPB	chr22:33176405-33176781	HepG2	liver:	n/a	n/a
3	MYBL2	chr22:33175634-33176938	HepG2	liver:	n/a	n/a
4	TEAD4	chr22:33175736-33176946	HepG2	liver:	n/a	n/a
5	HDAC2	chr22:33176234-33176907	HepG2	liver:	n/a	n/a
6	FOXA1	chr22:33176248-33176864	HepG2	liver:	n/a	n/a
7	ZEB1	chr22:33175582-33176933	HepG2	liver:	n/a	chr22:33176459-33176471
8	MYBL2	chr22:33175965-33176850	HepG2	liver:	n/a	n/a
9	FOXA1	chr22:33176097-33176874	HepG2	liver:	n/a	n/a
10	RXRA	chr22:33176074-33176818	HepG2	liver:	n/a	n/a
11	RAD21	chr22:33176248-33176865	HepG2	liver:	n/a	chr22:33176387-33176396
12	FOXA1	chr22:33176303-33176824	HepG2	liver:	n/a	n/a
13	MBD4	chr22:33176343-33176897	HepG2	liver:	n/a	n/a
14	CREB1	chr22:33176056-33176873	HepG2	liver:	n/a	n/a
15	CEBPB	chr22:33176387-33176823	HepG2	liver:	n/a	n/a
16	MAZ	chr22:33176247-33176864	HepG2	liver:	n/a	n/a
17	FOXA2	chr22:33176289-33176811	HepG2	liver:	n/a	n/a
18	POLR2A	chr22:33176043-33176800	HepG2	liver:	n/a	n/a
19	NFIC	chr22:33176032-33176845	HepG2	liver:	n/a	n/a
20	MXI1	chr22:33175748-33176773	HepG2	liver:	n/a	n/a
21	ZEB1	chr22:33176052-33176886	HepG2	liver:	n/a	chr22:33176459-33176471
22	NFIC	chr22:33176100-33176877	HepG2	liver:	n/a	n/a
23	CREB1	chr22:33175647-33176915	HepG2	liver:	n/a	n/a
24	POLR2A	chr22:33176651-33177027	SK-N-MC	brain:	n/a	n/a
25	HNF4A	chr22:33175684-33176829	HepG2	liver:	n/a	chr22:33176584-33176599
26	FOXA1	chr22:33175983-33176884	HepG2	liver:	n/a	n/a
27	SP1	chr22:33176082-33176883	HepG2	liver:	n/a	n/a
28	HNF4A	chr22:33176313-33176854	HepG2	liver:	n/a	chr22:33176584-33176599
29	RCOR1	chr22:33175677-33176803	HepG2	liver:	n/a	n/a
30	HNF4A	chr22:33176313-33176776	HepG2	liver:	n/a	chr22:33176584-33176599
31	MAFK	chr22:33176236-33176810	HepG2	liver:	n/a	n/a
32	EP300	chr22:33175546-33176900	HepG2	liver:	n/a	chr22:33176254-33176270
33	HDAC2	chr22:33176122-33176817	HepG2	liver:	n/a	chr22:33176134-33176148
34	HNF4G	chr22:33176080-33176833	HepG2	liver:	n/a	chr22:33176584-33176599
35	EP300	chr22:33176232-33176788	HepG2	liver:	n/a	chr22:33176254-33176270
36	JUND	chr22:33176446-33176771	HepG2	liver:	n/a	n/a
37	ARID3A	chr22:33176363-33176768	HepG2	liver:	n/a	n/a
38	TBP	chr22:33175743-33176798	HepG2	liver:	n/a	n/a
39	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: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11703156	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs137501	1.00[CHB][hapmap]
rs1427377	1.00[CHB][hapmap]
rs1427378	1.00[CHB][hapmap]
rs2040437	1.00[CHB][hapmap]
rs2267184	1.00[CHB][hapmap]
rs2267185	1.00[CHB][hapmap]
rs5749512	1.00[JPT][hapmap]
rs5749524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754266	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs5754274	0.85[ASN][1000 genomes]
rs5754280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5754282	0.86[ASW][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs5754288	1.00[JPT][hapmap]
rs713685	0.88[GIH][hapmap]
rs7289098	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs737088	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs80689	1.00[CHB][hapmap]
rs933255	1.00[CHB][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5754281	SLC35E4	cis	cerebellum	SCAN

Chromatin state (count:34 , 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	chr22:33175000-33176800	Flanking Active TSS	HepG2	liver
5	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:33175400-33176800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:33175400-33176800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr22:33175400-33176800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:33175600-33176800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr22:33175600-33176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr22:33175600-33176800	Enhancers	Lung	lung
12	chr22:33175600-33176800	Enhancers	HMEC	breast
13	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
14	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:33175600-33177600	Enhancers	Placenta	Placenta
16	chr22:33175800-33176800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr22:33175800-33176800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr22:33175800-33176800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:33175800-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:33175800-33176800	Enhancers	Duodenum Mucosa	Duodenum
21	chr22:33175800-33176800	Enhancers	Fetal Intestine Small	intestine
22	chr22:33175800-33176800	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:33175800-33177400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr22:33176000-33178000	Enhancers	Adipose Nuclei	Adipose
25	chr22:33176200-33176800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr22:33176200-33176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:33176200-33176800	Enhancers	NHEK	skin
28	chr22:33176200-33177400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr22:33176400-33177400	Enhancers	Liver	Liver
30	chr22:33176400-33177400	Weak transcription	Right Atrium	heart
31	chr22:33176400-33181600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr22:33176600-33177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:33176600-33181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33176600-33184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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