Variant report

Variant	rs41317489
Chromosome Location	chr1:186092103-186092104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11576597	0.83[EUR][1000 genomes]
rs11581389	0.83[EUR][1000 genomes]
rs11584685	0.92[EUR][1000 genomes]
rs11586165	1.00[EUR][1000 genomes]
rs11803845	0.92[EUR][1000 genomes]
rs12067376	0.83[EUR][1000 genomes]
rs16825012	1.00[EUR][1000 genomes]
rs16825020	0.85[EUR][1000 genomes]
rs41317473	0.83[EUR][1000 genomes]
rs41317491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6693069	0.92[EUR][1000 genomes]
rs6695626	1.00[EUR][1000 genomes]
rs72707448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707459	0.92[EUR][1000 genomes]
rs72707472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72707476	1.00[EUR][1000 genomes]
rs72718888	0.83[EUR][1000 genomes]
rs72718900	0.83[EUR][1000 genomes]
rs72720904	1.00[EUR][1000 genomes]
rs72720910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518663	1.00[EUR][1000 genomes]
rs9661710	1.00[EUR][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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186052200-186118200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:186064000-186094200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186065200-186093800	Weak transcription	Spleen	Spleen
6	chr1:186072600-186108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:186072800-186107800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:186073000-186121400	Weak transcription	NH-A	brain
9	chr1:186075000-186113600	Weak transcription	Lung	lung
10	chr1:186076400-186106800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:186076800-186097200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:186079000-186108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:186082800-186093800	Weak transcription	Ovary	ovary
15	chr1:186084400-186106600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:186089400-186107600	Weak transcription	Fetal Lung	lung
17	chr1:186090200-186092200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:186090200-186092600	Strong transcription	Aorta	Aorta
19	chr1:186091800-186092200	Enhancers	K562	blood
20	chr1:186092000-186092600	Strong transcription	Liver	Liver
21	chr1:186092000-186092600	ZNF genes & repeats	Left Ventricle	heart
22	chr1:186092000-186092800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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