Variant report

Variant	rs73406159
Chromosome Location	chr22:31444538-31444539
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31440735..31445105-chr22:31479162..31482553,6	K562	blood:
2	chr22:31437736..31441147-chr22:31443914..31447179,4	K562	blood:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11913101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57300566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61092468	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61443428	0.81[AFR][1000 genomes]
rs61674975	1.00[AFR][1000 genomes]
rs73406156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881308	1.00[AFR][1000 genomes]
rs73881309	0.93[AFR][1000 genomes]
rs8138862	0.81[AFR][1000 genomes]
rs8141062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31440200-31447400	Enhancers	Adipose Nuclei	Adipose
4	chr22:31440600-31451000	Weak transcription	Osteobl	bone
5	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
6	chr22:31442800-31444600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31443000-31445800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:31443000-31449800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:31443000-31451000	Weak transcription	A549	lung
14	chr22:31443200-31444600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:31443200-31444800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
19	chr22:31443400-31444600	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:31443400-31445200	Weak transcription	Placenta	Placenta
21	chr22:31443400-31445400	Weak transcription	Fetal Lung	lung
22	chr22:31443400-31445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
24	chr22:31443600-31444600	Weak transcription	Right Atrium	heart
25	chr22:31443600-31445000	Weak transcription	HUVEC	blood vessel
26	chr22:31443600-31445400	Weak transcription	Lung	lung
27	chr22:31443600-31445600	Weak transcription	HepG2	liver
28	chr22:31443600-31446000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:31443600-31451000	Weak transcription	Ovary	ovary
30	chr22:31443600-31455400	Weak transcription	K562	blood
31	chr22:31444200-31445200	Enhancers	Spleen	Spleen
32	chr22:31444200-31446400	Enhancers	Left Ventricle	heart
33	chr22:31444400-31446200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:31444400-31446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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