Variant report

Variant	rs73402686
Chromosome Location	chr22:30601690-30601691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30593597..30595321-chr22:30600135..30601730,2	K562	blood:
2	chr22:30592298..30595321-chr22:30600135..30602217,3	K562	blood:
3	chr22:30600518..30603071-chr22:30604454..30606610,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58898724	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58972070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60615268	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73400673	1.00[AMR][1000 genomes]
rs73400695	1.00[AMR][1000 genomes]
rs73402651	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
6	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr22:30597800-30602400	Enhancers	Duodenum Mucosa	Duodenum
8	chr22:30598200-30601800	Enhancers	Esophagus	oesophagus
9	chr22:30598400-30601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30598600-30607000	Enhancers	Placenta	Placenta
11	chr22:30599000-30602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30599000-30605200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:30599200-30602800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:30599800-30602800	Weak transcription	Lung	lung
15	chr22:30599800-30605600	Enhancers	NHLF	lung
16	chr22:30600000-30602200	Enhancers	Fetal Lung	lung
17	chr22:30600000-30603600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr22:30600000-30604200	Weak transcription	Fetal Kidney	kidney
19	chr22:30600000-30605000	Weak transcription	Pancreas	Pancrea
20	chr22:30600200-30601800	Enhancers	Fetal Thymus	thymus
21	chr22:30600200-30607800	Enhancers	NH-A	brain
22	chr22:30600400-30601800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
23	chr22:30600400-30601800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
24	chr22:30600400-30606000	Enhancers	Ovary	ovary
25	chr22:30600400-30607000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:30600400-30607000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30600400-30607200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:30600400-30610000	Enhancers	HMEC	breast
29	chr22:30600600-30601800	Enhancers	Colonic Mucosa	Colon
30	chr22:30600600-30602000	Enhancers	Brain Anterior Caudate	brain
31	chr22:30600600-30602200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30600600-30602200	Enhancers	Colon Smooth Muscle	Colon
33	chr22:30600600-30602200	Enhancers	Spleen	Spleen
34	chr22:30600600-30603800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:30600600-30605000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:30600800-30601800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr22:30600800-30602000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:30600800-30606200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr22:30601000-30610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr22:30601200-30601800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:30601200-30601800	Enhancers	Brain Germinal Matrix	brain
42	chr22:30601200-30601800	Enhancers	Fetal Brain Male	brain
43	chr22:30601200-30601800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr22:30601200-30602000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:30601200-30602000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr22:30601200-30602000	Flanking Active TSS	HSMM	muscle
47	chr22:30601200-30602200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr22:30601200-30602200	Enhancers	K562	blood
49	chr22:30601200-30602400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:30601200-30603200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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