Variant report

Variant	rs72707450
Chromosome Location	chr1:186107838-186107839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489752	0.94[EUR][1000 genomes]
rs11808677	0.94[EUR][1000 genomes]
rs11809665	0.94[EUR][1000 genomes]
rs11811575	0.94[EUR][1000 genomes]
rs16824945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825022	0.84[EUR][1000 genomes]
rs16825024	0.84[EUR][1000 genomes]
rs41317507	0.94[EUR][1000 genomes]
rs58758627	0.94[EUR][1000 genomes]
rs59091582	0.94[EUR][1000 genomes]
rs59379268	0.94[EUR][1000 genomes]
rs6658106	0.94[EUR][1000 genomes]
rs6672327	0.94[EUR][1000 genomes]
rs72707466	0.94[EUR][1000 genomes]
rs72707470	0.94[EUR][1000 genomes]
rs74136040	1.00[ASN][1000 genomes]
rs7527214	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7552194	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 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	chr1:186064600-186113200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:186072600-186108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:186073000-186121400	Weak transcription	NH-A	brain
6	chr1:186075000-186113600	Weak transcription	Lung	lung
7	chr1:186079000-186108000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:186092800-186108200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:186100000-186113200	Weak transcription	Left Ventricle	heart
11	chr1:186100000-186113400	Weak transcription	Aorta	Aorta
12	chr1:186103600-186108000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:186106000-186108600	Weak transcription	NHLF	lung
14	chr1:186107200-186115000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:186107400-186114600	Weak transcription	Liver	Liver
16	chr1:186107600-186108000	Strong transcription	Fetal Lung	lung
17	chr1:186107600-186113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:186107800-186108000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:186107800-186109600	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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