Variant report

Variant	rs10857948
Chromosome Location	chr1:112805463-112805464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10745327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102446	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11102448	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4491059	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4590669	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513316	0.94[ASN][1000 genomes]
rs7527349	0.94[ASN][1000 genomes]
rs7554440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2762184	chr1:112801661-112805968	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112788800-112812200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:112800200-112805600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:112802000-112806800	Weak transcription	Small Intestine	intestine
4	chr1:112802800-112806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:112803200-112806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:112803400-112806800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:112803400-112808200	Enhancers	HSMMtube	muscle
8	chr1:112803800-112806600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:112803800-112806600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:112804000-112807000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:112804200-112806600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:112804200-112806600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:112804800-112807200	Enhancers	Right Atrium	heart
14	chr1:112805000-112805800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:112805000-112808200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:112805000-112808400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:112805000-112808600	Enhancers	Fetal Stomach	stomach
18	chr1:112805200-112807400	Enhancers	HSMM	muscle

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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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