Variant report

Variant	rs72667890
Chromosome Location	chr1:56057356-56057357
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:17)

rs_ID	r²[population]
rs17416725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17417072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41297891	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41297893	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56058312	0.84[EUR][1000 genomes]
rs72667861	0.84[EUR][1000 genomes]
rs72667865	0.84[EUR][1000 genomes]
rs72667866	0.84[EUR][1000 genomes]
rs72667868	0.84[EUR][1000 genomes]
rs72667875	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72667878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667893	0.84[EUR][1000 genomes]
rs72669719	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669723	0.92[EUR][1000 genomes]
rs72669726	0.92[EUR][1000 genomes]
rs72669728	0.92[EUR][1000 genomes]
rs72669729	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
3	chr1:56052600-56057800	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:56053800-56058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56053800-56058400	Enhancers	NHDF-Ad	bronchial
7	chr1:56054400-56059000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:56054600-56058000	Weak transcription	Aorta	Aorta
9	chr1:56056000-56057400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:56056000-56058000	Weak transcription	Fetal Stomach	stomach
11	chr1:56056000-56066000	Weak transcription	Fetal Lung	lung
12	chr1:56056200-56057600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:56056200-56058200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:56056200-56062400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:56056800-56058000	Enhancers	Ovary	ovary
16	chr1:56057200-56057400	Enhancers	HMEC	breast
17	chr1:56057200-56058800	Enhancers	Fetal Heart	heart
18	chr1:56057200-56059200	Enhancers	Right Atrium	heart

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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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