Variant report

Variant	rs2001050
Chromosome Location	chr22:33175786-33175787
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	HEY1	chr22:33175734-33176027	HepG2	liver:	n/a	n/a
2	MYBL2	chr22:33175634-33176938	HepG2	liver:	n/a	n/a
3	TEAD4	chr22:33175736-33176946	HepG2	liver:	n/a	n/a
4	ZEB1	chr22:33175582-33176933	HepG2	liver:	n/a	chr22:33176459-33176471
5	POLR2A	chr22:33175782-33176704	HepG2	liver:	n/a	n/a
6	CEBPB	chr22:33175691-33176173	HepG2	liver:	n/a	chr22:33176005-33176016
7	POLR2A	chr22:33175478-33176756	HepG2	liver:	n/a	n/a
8	MXI1	chr22:33175748-33176773	HepG2	liver:	n/a	n/a
9	SRF	chr22:33175718-33175996	HepG2	liver:	n/a	chr22:33175907-33175920 chr22:33175904-33175922 chr22:33175908-33175919
10	CEBPB	chr22:33175757-33176181	HepG2	liver:	n/a	chr22:33176005-33176016
11	CREB1	chr22:33175647-33176915	HepG2	liver:	n/a	n/a
12	HNF4A	chr22:33175684-33176829	HepG2	liver:	n/a	chr22:33176584-33176599
13	HDAC2	chr22:33175714-33176094	HepG2	liver:	n/a	n/a
14	RCOR1	chr22:33175677-33176803	HepG2	liver:	n/a	n/a
15	HEY1	chr22:33175735-33176751	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:33175664-33176037	HepG2	liver:	n/a	n/a
17	SRF	chr22:33175766-33175983	HepG2	liver:	n/a	chr22:33175907-33175920 chr22:33175904-33175922 chr22:33175908-33175919
18	MBD4	chr22:33175509-33175977	HepG2	liver:	n/a	n/a
19	EP300	chr22:33175546-33176900	HepG2	liver:	n/a	chr22:33176254-33176270
20	POLR2A	chr22:33175707-33176038	HepG2	liver:	n/a	n/a
21	YY1	chr22:33175747-33176039	HepG2	liver:	n/a	n/a
22	POLR2A	chr22:33175784-33175997	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr22:33175674-33176335	HepG2	liver:	n/a	n/a
24	POLR2A	chr22:33175702-33176732	HepG2	liver:	n/a	n/a
25	FOXA2	chr22:33175705-33175997	HepG2	liver:	n/a	n/a
26	TBP	chr22:33175743-33176798	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
ENSG00000185666	Chromatin interaction
ENSG00000128276	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1079734	0.89[ASN][1000 genomes]
rs17503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001048	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2001051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413152	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs28496892	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788505	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820094	0.82[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4821099	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4821103	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs4992163	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5749507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749508	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5754252	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754255	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754259	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754264	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5754265	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5754267	0.86[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs5754268	0.88[ASN][1000 genomes]
rs5754269	0.87[ASN][1000 genomes]
rs5754270	0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs5754271	0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs5754275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754276	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754277	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754279	0.87[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs5994624	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5994626	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5994627	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5998617	0.90[ASN][1000 genomes]
rs5998630	0.88[ASN][1000 genomes]
rs5998631	0.88[ASN][1000 genomes]
rs5998632	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5998633	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs5998635	0.88[ASN][1000 genomes]
rs7289631	0.88[ASN][1000 genomes]
rs8135713	0.88[ASN][1000 genomes]
rs978808	0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs978809	0.83[CHB][hapmap];0.88[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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33174200-33184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33175000-33176800	Flanking Active TSS	HepG2	liver
6	chr22:33175000-33177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:33175400-33176800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr22:33175400-33176800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr22:33175400-33176800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:33175600-33175800	Weak transcription	Right Atrium	heart
11	chr22:33175600-33176000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr22:33175600-33176400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:33175600-33176400	Flanking Active TSS	Liver	Liver
14	chr22:33175600-33176600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:33175600-33176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33175600-33176600	Enhancers	Fetal Intestine Large	intestine
17	chr22:33175600-33176600	Enhancers	Fetal Thymus	thymus
18	chr22:33175600-33176800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr22:33175600-33176800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr22:33175600-33176800	Enhancers	Lung	lung
21	chr22:33175600-33176800	Enhancers	HMEC	breast
22	chr22:33175600-33177400	Enhancers	Pancreas	Pancrea
23	chr22:33175600-33177600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:33175600-33177600	Enhancers	Placenta	Placenta

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