Variant report

Variant	rs5754275
Chromosome Location	chr22:33173658-33173659
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000128276	Chromatin interaction
ENSG00000185666	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	0.90[ASN][1000 genomes]
rs17503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2001048	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2001049	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2001050	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2001051	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2413152	0.89[ASN][1000 genomes]
rs28496892	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3788505	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820094	0.92[ASN][1000 genomes]
rs4821099	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821103	0.89[ASN][1000 genomes]
rs4992163	0.89[ASN][1000 genomes]
rs5749507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5749508	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5754252	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754255	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754259	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754264	0.89[ASN][1000 genomes]
rs5754265	0.89[ASN][1000 genomes]
rs5754267	0.87[ASN][1000 genomes]
rs5754268	0.89[ASN][1000 genomes]
rs5754269	0.87[ASN][1000 genomes]
rs5754270	0.89[ASN][1000 genomes]
rs5754271	0.89[ASN][1000 genomes]
rs5754276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754277	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754279	0.86[ASN][1000 genomes]
rs5994624	0.89[ASN][1000 genomes]
rs5994626	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994627	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998617	0.91[ASN][1000 genomes]
rs5998630	0.89[ASN][1000 genomes]
rs5998631	0.89[ASN][1000 genomes]
rs5998632	0.89[ASN][1000 genomes]
rs5998633	0.89[ASN][1000 genomes]
rs5998635	0.89[ASN][1000 genomes]
rs7289631	0.89[ASN][1000 genomes]
rs8135713	0.89[ASN][1000 genomes]
rs978808	0.89[ASN][1000 genomes]
rs978809	0.89[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:33168200-33175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33169200-33175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33171600-33174800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:33171800-33174200	Enhancers	Fetal Thymus	thymus
6	chr22:33171800-33175000	Enhancers	HepG2	liver
7	chr22:33172600-33175400	Weak transcription	Liver	Liver
8	chr22:33173000-33174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:33173000-33174000	Weak transcription	Adipose Nuclei	Adipose
10	chr22:33173000-33174000	Weak transcription	Spleen	Spleen
11	chr22:33173000-33175600	Weak transcription	Pancreas	Pancrea
12	chr22:33173400-33173800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:33173400-33173800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:33173400-33177400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:33173400-33179000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:33173600-33175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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