Variant report

Variant	rs73430165
Chromosome Location	chr22:28979356-28979357
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	chr22:28873207..28875970-chr22:28979240..28981638,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs61140789	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286036	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7289729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293211	1.00[AMR][1000 genomes]
rs73427775	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73432211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437891	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437897	1.00[AMR][1000 genomes]
rs73439834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137771	1.00[AMR][1000 genomes]
rs8139793	0.83[AFR][1000 genomes]
rs8140238	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28967800-28997600	Weak transcription	HepG2	liver
4	chr22:28972200-28983000	Weak transcription	Psoas Muscle	Psoas
5	chr22:28973200-28983000	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:28974000-28981400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:28974800-28982800	Weak transcription	Gastric	stomach
8	chr22:28978000-28980600	Enhancers	NHDF-Ad	bronchial
9	chr22:28978400-28979600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:28978400-28979800	Enhancers	Osteobl	bone
11	chr22:28978600-28979600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:28978600-28979600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28978600-28979600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr22:28978600-28980400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28978600-28980400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:28978600-28980400	Enhancers	NHLF	lung
17	chr22:28978600-28980600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr22:28978800-28979400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr22:28978800-28979600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:28978800-28979600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr22:28978800-28979600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr22:28978800-28979600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:28978800-28979600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:28978800-28979600	Enhancers	NH-A	brain
25	chr22:28978800-28979800	Enhancers	Brain Anterior Caudate	brain
26	chr22:28979000-28979600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr22:28979000-28979600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:28979000-28980400	Enhancers	Fetal Lung	lung
29	chr22:28979200-28979600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr22:28979200-28979600	Active TSS	Adipose Nuclei	Adipose
31	chr22:28979200-28980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:28979200-28980200	Weak transcription	Fetal Kidney	kidney
33	chr22:28979200-28991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach

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