Variant report

Variant	rs5754227
Chromosome Location	chr22:33105817-33105818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32211896-32215168..22:33105668-33108370	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000236132	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10854627	0.82[CHB][hapmap]
rs10854628	0.87[CHB][hapmap]
rs11089591	0.89[ASN][1000 genomes]
rs11913403	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12484015	0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs12484429	0.81[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs13054529	0.83[CHB][hapmap];0.90[ASN][1000 genomes]
rs13058500	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs1475978	0.81[ASN][1000 genomes]
rs1475979	0.81[ASN][1000 genomes]
rs16991028	0.83[ASN][1000 genomes]
rs16991084	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs2899193	0.82[CHB][hapmap]
rs3827339	0.87[CHB][hapmap]
rs4821089	0.87[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs5754222	0.83[CHB][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5754226	0.81[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs725337	0.84[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs725338	0.82[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs7286819	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs7289865	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7291090	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7291198	0.86[CHB][hapmap]
rs731933	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs743741	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs743742	0.86[CHB][hapmap]
rs743744	0.87[CHB][hapmap];0.88[ASN][1000 genomes]
rs743745	0.87[CHB][hapmap]
rs8136470	0.89[CHB][hapmap]
rs9619301	0.86[CHB][hapmap]
rs997120	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv979672	chr22:33105500-33109433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33103000-33113600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33103400-33106200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33103600-33106000	Enhancers	NHDF-Ad	bronchial
4	chr22:33103600-33106000	Enhancers	Osteobl	bone
5	chr22:33104000-33106400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:33104200-33107200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33105000-33106200	Weak transcription	Right Atrium	heart
9	chr22:33105000-33108400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:33105000-33108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:33105000-33108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:33105200-33107600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:33105200-33107800	Weak transcription	Placenta	Placenta
14	chr22:33105200-33107800	Weak transcription	Spleen	Spleen
15	chr22:33105200-33108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:33105200-33108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:33105200-33108400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:33105200-33110000	Weak transcription	Fetal Lung	lung
19	chr22:33105200-33110800	Weak transcription	HSMMtube	muscle
20	chr22:33105200-33113400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:33105200-33113800	Weak transcription	NH-A	brain
22	chr22:33105400-33108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:33105400-33108600	Weak transcription	Fetal Muscle Leg	muscle
24	chr22:33105400-33110000	Weak transcription	Fetal Stomach	stomach
25	chr22:33105600-33108400	Weak transcription	Adipose Nuclei	Adipose
26	chr22:33105800-33108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:33105800-33108800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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