Variant report

Variant	rs12720500
Chromosome Location	chr1:186830552-186830553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12720496	1.00[EUR][1000 genomes]
rs12720505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12720562	1.00[EUR][1000 genomes]
rs12720690	1.00[EUR][1000 genomes]
rs41516146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58494780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60068409	1.00[EUR][1000 genomes]
rs73053092	1.00[EUR][1000 genomes]
rs7513536	1.00[EUR][1000 genomes]
rs7546816	1.00[EUR][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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
4	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:186824200-186832200	Weak transcription	HUVEC	blood vessel
7	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:186826000-186833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:186827200-186834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:186828400-186835200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:186828800-186831800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186828800-186833200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186829000-186834400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:186829200-186834400	Weak transcription	NHEK	skin
15	chr1:186829400-186830600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:186829600-186830600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:186829600-186831800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186829600-186839000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:186830000-186838400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:186830400-186830600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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