Variant report

Variant	rs7554440
Chromosome Location	chr1:112809037-112809038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112803413..112805956-chr1:112808541..112810766,2	MCF-7	breast:
2	chr1:112801731..112804548-chr1:112808413..112809966,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10745327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10857948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11102446	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11102448	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4491059	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4590669	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513316	0.94[ASN][1000 genomes]
rs7527349	0.94[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7554440	CEPT1	cis	cerebellum	SCAN

Chromatin state (count:28 , 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	chr1:112806200-112809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:112806800-112811000	Weak transcription	K562	blood
4	chr1:112807000-112809400	Weak transcription	Left Ventricle	heart
5	chr1:112807000-112809400	Weak transcription	Lung	lung
6	chr1:112807200-112810000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:112807200-112810800	Weak transcription	Osteobl	bone
8	chr1:112807400-112810200	Weak transcription	HSMM	muscle
9	chr1:112807600-112810200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:112807800-112810200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:112807800-112811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:112808000-112810000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:112808000-112810200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:112808200-112810000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:112808200-112810000	Weak transcription	HSMMtube	muscle
16	chr1:112808200-112810600	Weak transcription	Placenta	Placenta
17	chr1:112808200-112815200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:112808400-112810000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:112808400-112810200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:112808600-112809400	Weak transcription	Pancreas	Pancrea
21	chr1:112808600-112810000	Weak transcription	Ovary	ovary
22	chr1:112808600-112810200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:112808600-112810200	Weak transcription	Fetal Stomach	stomach
24	chr1:112808600-112810800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:112808800-112809400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:112808800-112810000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:112809000-112809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:112809000-112810000	Weak transcription	Right Atrium	heart

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