Variant report

Variant	rs1416893
Chromosome Location	chr1:222133878-222133879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10218472	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11118906	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11118907	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11118908	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12066449	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2790752	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2790760	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2800846	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994035	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34308781	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222132000-222134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:222132000-222134800	Weak transcription	NHEK	skin
3	chr1:222132000-222135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:222132000-222135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:222132200-222134200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:222132200-222135200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:222132400-222134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:222133000-222134200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:222133200-222134800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:222133400-222134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:222133400-222137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:222133600-222134200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:222133600-222134400	Weak transcription	NHLF	lung
14	chr1:222133600-222135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:222133600-222135800	Enhancers	K562	blood
16	chr1:222133600-222136200	Enhancers	HSMMtube	muscle
17	chr1:222133600-222137400	Enhancers	Dnd41	blood
18	chr1:222133800-222135000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:222133800-222135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:222133800-222135200	Enhancers	Hela-S3	cervix
21	chr1:222133800-222135400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:222133800-222136000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:222133800-222136400	Enhancers	HMEC	breast
24	chr1:222133800-222136400	Enhancers	HSMM	muscle

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