Variant report

Variant	rs7527349
Chromosome Location	chr1:112802869-112802870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10745327	0.94[ASN][1000 genomes]
rs10857948	0.94[ASN][1000 genomes]
rs11102446	0.96[ASN][1000 genomes]
rs11102448	0.94[ASN][1000 genomes]
rs4491059	1.00[ASN][1000 genomes]
rs4590669	1.00[ASN][1000 genomes]
rs7513316	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554440	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7527349	CEPT1	cis	cerebellum	SCAN

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	chr1:112798800-112805000	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:112799000-112803400	Weak transcription	HSMMtube	muscle
4	chr1:112800000-112805200	Weak transcription	HSMM	muscle
5	chr1:112800200-112805600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:112801600-112804800	Weak transcription	Right Atrium	heart
7	chr1:112802000-112806800	Weak transcription	Small Intestine	intestine
8	chr1:112802200-112805000	Weak transcription	Fetal Stomach	stomach
9	chr1:112802600-112804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:112802600-112804200	Enhancers	Brain Substantia Nigra	brain
11	chr1:112802800-112803200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:112802800-112803400	Enhancers	Brain Angular Gyrus	brain
13	chr1:112802800-112803600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:112802800-112803800	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:112802800-112803800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:112802800-112804000	Enhancers	Brain Anterior Caudate	brain
17	chr1:112802800-112804200	Enhancers	Brain Hippocampus Middle	brain
18	chr1:112802800-112806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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