Variant report

Variant	rs2807846
Chromosome Location	chr1:221003656-221003657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2642427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2642431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2642449	0.87[CEU][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2807840	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2807841	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2807847	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2807849	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220984600-221006600	Weak transcription	Psoas Muscle	Psoas
2	chr1:220987600-221003800	Weak transcription	HepG2	liver
3	chr1:220995600-221005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:220998200-221004200	Weak transcription	Aorta	Aorta
5	chr1:221001000-221004200	Enhancers	Right Atrium	heart
6	chr1:221001000-221004800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:221001400-221003800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:221001800-221005000	Weak transcription	Lung	lung
9	chr1:221001800-221006400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:221002200-221004200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:221002200-221004200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:221002800-221006600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:221002800-221006600	Weak transcription	Fetal Stomach	stomach
14	chr1:221002800-221016200	Weak transcription	Fetal Lung	lung
15	chr1:221003000-221003800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:221003000-221005400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:221003400-221004400	Weak transcription	Left Ventricle	heart
18	chr1:221003400-221005000	Weak transcription	Liver	Liver
19	chr1:221003400-221006400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:221003600-221005400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:221003600-221006200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:221003600-221012200	Weak transcription	Fetal Heart	heart

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