Variant report

Variant	rs2072908
Chromosome Location	chr1:209776983-209776984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:209776741-209777029	HepG2	liver:	n/a	chr1:209776899-209776914
2	MAFK	chr1:209776729-209777064	HepG2	liver:	n/a	chr1:209776899-209776914 chr1:209776734-209776748
3	MAFK	chr1:209776769-209777035	IMR90	lung:	n/a	chr1:209776899-209776914
4	MAFF	chr1:209776779-209777073	HepG2	liver:	n/a	chr1:209776898-209776916

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209776929..209778715-chr1:209779809..209782231,2	K562	blood:
2	chr1:209776183..209777954-chr1:209779787..209782159,2	MCF-7	breast:

Variant related genes	Relation type
CAMK1G	TF binding region
ENSG00000008118	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489338	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs11119309	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs12058586	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12069172	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12080730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094286	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17014799	0.82[ASN][1000 genomes]
rs17014808	0.83[ASN][1000 genomes]
rs17014842	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2076225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6690557	0.85[CHB][hapmap]
rs9429821	0.85[CHB][hapmap]
rs9429822	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430000	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9430001	0.83[CHB][hapmap]
rs9430005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072908	CCDC18	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209764200-209780400	Weak transcription	Fetal Brain Male	brain
2	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
3	chr1:209769800-209781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:209769800-209781200	Weak transcription	Spleen	Spleen
5	chr1:209771000-209780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:209772200-209783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:209773000-209777200	Weak transcription	Fetal Heart	heart
9	chr1:209774200-209780400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:209774800-209780400	Weak transcription	HMEC	breast
11	chr1:209775200-209778400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:209775800-209780200	Weak transcription	NHEK	skin
14	chr1:209775800-209780400	Weak transcription	Osteobl	bone
15	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:209776000-209778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
18	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:209776400-209777600	Strong transcription	Fetal Lung	lung
20	chr1:209776400-209780000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:209776600-209777800	Strong transcription	Ovary	ovary
22	chr1:209776600-209778400	Strong transcription	Brain Angular Gyrus	brain
23	chr1:209776800-209781200	Strong transcription	Brain Inferior Temporal Lobe	brain

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