Variant report

Variant	rs73394851
Chromosome Location	chr22:30239591-30239592
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30232853..30235316-chr22:30238798..30240388,2	MCF-7	breast:
2	chr22:30232501..30234053-chr22:30238394..30240454,2	K562	blood:
3	chr22:30238896..30240450-chr22:30246132..30247997,2	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs28647168	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56733052	1.00[AMR][1000 genomes]
rs57258477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58255360	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58521475	0.83[AFR][1000 genomes]
rs58538392	0.82[AFR][1000 genomes]
rs5997540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997565	1.00[AMR][1000 genomes]
rs6006297	1.00[AMR][1000 genomes]
rs6006299	1.00[AMR][1000 genomes]
rs6006301	1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	1.00[AMR][1000 genomes]
rs60245742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	1.00[AMR][1000 genomes]
rs61540772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394863	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394876	1.00[AMR][1000 genomes]
rs73396842	1.00[AMR][1000 genomes]
rs73396845	1.00[AMR][1000 genomes]
rs73398604	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30237600-30240000	Enhancers	NHDF-Ad	bronchial
2	chr22:30237800-30239600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30237800-30239800	Enhancers	NHEK	skin
4	chr22:30237800-30240000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr22:30238000-30239800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:30238200-30239600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:30238200-30239600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:30238200-30239600	Enhancers	Stomach Mucosa	stomach
9	chr22:30238200-30239600	Enhancers	HepG2	liver
10	chr22:30238200-30239800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:30238200-30239800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:30238200-30239800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr22:30238200-30239800	Enhancers	Adipose Nuclei	Adipose
14	chr22:30238200-30239800	Enhancers	HMEC	breast
15	chr22:30238200-30239800	Enhancers	HSMM	muscle
16	chr22:30238200-30239800	Enhancers	Osteobl	bone
17	chr22:30238200-30240000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:30238400-30239600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr22:30238400-30239800	Enhancers	HSMMtube	muscle
20	chr22:30238400-30240000	Enhancers	NHLF	lung
21	chr22:30238600-30244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:30238800-30239800	Enhancers	NH-A	brain
23	chr22:30239000-30239600	Weak transcription	A549	lung

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