Variant report

Variant	rs58537066
Chromosome Location	chr1:186826925-186826926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12720496	0.87[AFR][1000 genomes]
rs12720505	0.87[AFR][1000 genomes]
rs41516146	0.96[AFR][1000 genomes]
rs58494780	0.96[AFR][1000 genomes]
rs60068409	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv3422700	chr1:186825154-186827702	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv3365243	chr1:186825429-186827702	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	esv3355632	chr1:186825929-186827327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
3	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
6	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186818800-186828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:186819000-186827800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:186822800-186828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186823000-186828000	Weak transcription	Fetal Brain Male	brain
12	chr1:186824200-186832200	Weak transcription	HUVEC	blood vessel
13	chr1:186825400-186827600	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:186825400-186828200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:186825400-186828200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:186825400-186829800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:186825800-186827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:186826000-186829400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:186826000-186829600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:186826000-186833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:186826200-186827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186826600-186827200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:186826800-186827200	ZNF genes & repeats	Fetal Lung	lung

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