Variant report

Variant	rs851161
Chromosome Location	chr1:223381120-223381121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10047135	1.00[AMR][1000 genomes]
rs17163736	1.00[AMR][1000 genomes]
rs2160153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430406	1.00[AMR][1000 genomes]
rs712864	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223371200-223389800	Weak transcription	Gastric	stomach
2	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:223377400-223382400	Weak transcription	K562	blood
4	chr1:223378600-223382200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:223379600-223388000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:223380000-223381800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:223380800-223381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:223380800-223382400	Enhancers	HSMMtube	muscle
9	chr1:223380800-223382400	Enhancers	NH-A	brain
10	chr1:223380800-223382600	Enhancers	HSMM	muscle
11	chr1:223381000-223381200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:223381000-223381400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:223381000-223382000	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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