Variant report

Variant	rs12080730
Chromosome Location	chr1:209780416-209780417
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	POLR2A	chr1:209780297-209781698	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:209780396-209780523	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209778292..209780941-chr1:209782673..209784930,2	K562	blood:

Variant related genes	Relation type
CAMK1G	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10489338	0.83[ASN][1000 genomes]
rs11119309	0.83[ASN][1000 genomes]
rs12058586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12069172	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]
rs12094286	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[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2072908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076225	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]
rs9429822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430000	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:209769800-209781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:209769800-209781200	Weak transcription	Spleen	Spleen
4	chr1:209771000-209780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:209772200-209783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:209776800-209781200	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr1:209777800-209793000	Weak transcription	Ovary	ovary
13	chr1:209777800-209796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:209778400-209791400	Weak transcription	Brain Angular Gyrus	brain
15	chr1:209778800-209781400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:209779400-209785800	Weak transcription	Fetal Stomach	stomach
17	chr1:209779600-209781200	Strong transcription	Fetal Lung	lung
18	chr1:209779600-209793400	Weak transcription	Thymus	Thymus
19	chr1:209780000-209781400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:209780200-209781600	Enhancers	Fetal Heart	heart
21	chr1:209780200-209781800	Enhancers	GM12878-XiMat	blood
22	chr1:209780200-209781800	Enhancers	NHEK	skin
23	chr1:209780200-209784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:209780400-209780800	Strong transcription	Fetal Brain Male	brain
25	chr1:209780400-209781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:209780400-209781600	Enhancers	Osteobl	bone
27	chr1:209780400-209781800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:209780400-209781800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:209780400-209781800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:209780400-209781800	Enhancers	HMEC	breast

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