Variant report

Variant	rs2223308
Chromosome Location	chr1:186848028-186848029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10737271	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10798065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911938	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12042344	0.84[AFR][1000 genomes]
rs12720519	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16826055	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16826060	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2064115	0.88[AMR][1000 genomes]
rs2223309	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60328504	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7512281	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7534926	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv947343	chr1:186846236-186851365	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
3	esv3370350	chr1:186846479-186848527	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186840400-186849200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:186841000-186853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:186841000-186853800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:186841600-186850200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:186841800-186850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:186841800-186862400	Weak transcription	Hela-S3	cervix
8	chr1:186843400-186849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:186843400-186853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:186844200-186851600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:186844400-186850200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:186845200-186851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:186845200-186856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:186846000-186848400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:186846200-186850000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:186846400-186849200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:186846600-186850200	Weak transcription	Adipose Nuclei	Adipose
18	chr1:186846600-186850200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:186846600-186851600	Weak transcription	NHDF-Ad	bronchial
20	chr1:186847000-186848200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:186847800-186849000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:186847800-186851200	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:186848000-186848600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:186848000-186850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:186848000-186856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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