Variant report

Variant	rs5997740
Chromosome Location	chr22:31114345-31114346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31108562..31111393-chr22:31113342..31115524,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11089471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136369	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs136370	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4820896	1.00[ASN][1000 genomes]
rs9619131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31112600-31114600	Enhancers	HMEC	breast
2	chr22:31112600-31117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31112800-31114400	Enhancers	HSMMtube	muscle
4	chr22:31112800-31114400	Enhancers	NH-A	brain
5	chr22:31112800-31114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:31112800-31114600	Enhancers	Osteobl	bone
7	chr22:31112800-31114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:31112800-31114800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:31112800-31115200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:31112800-31115400	Enhancers	HSMM	muscle
11	chr22:31112800-31115600	Enhancers	Brain Hippocampus Middle	brain
12	chr22:31113000-31114400	Enhancers	Brain Substantia Nigra	brain
13	chr22:31113200-31114400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr22:31113200-31114400	Enhancers	Brain Angular Gyrus	brain
15	chr22:31113200-31114400	Enhancers	NHLF	lung
16	chr22:31113200-31115200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:31113200-31115400	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:31113200-31115400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:31113400-31114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31113800-31132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:31114000-31114400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:31114000-31140600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:31114200-31115000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:31114200-31115000	Weak transcription	Brain Anterior Caudate	brain
25	chr22:31114200-31115400	Enhancers	NHDF-Ad	bronchial
26	chr22:31114200-31115800	Weak transcription	Spleen	Spleen
27	chr22:31114200-31116000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:31114200-31118000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr22:31114200-31123000	Weak transcription	HUVEC	blood vessel

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