Variant report

Variant	rs72667828
Chromosome Location	chr1:56002521-56002522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55718597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55736946	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56058312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56237538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56246158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57193275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57832473	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61574505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72667829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667830	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72667834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667840	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667842	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667844	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72667851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72667861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72667865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72667866	1.00[AFR][1000 genomes];1.00[AMR][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	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	esv11545	chr1:56002387-56002939	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55997000-56002600	Enhancers	HepG2	liver
2	chr1:55997000-56005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56000800-56002800	Enhancers	Fetal Intestine Large	intestine
4	chr1:56001600-56005400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56002000-56002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56002000-56002600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:56002000-56002600	Enhancers	Colonic Mucosa	Colon
8	chr1:56002000-56002600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:56002000-56003200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:56002200-56002600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:56002200-56002600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:56002200-56002600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:56002200-56002600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:56002200-56002600	Active TSS	Colon Smooth Muscle	Colon
15	chr1:56002200-56002600	Active TSS	Duodenum Mucosa	Duodenum
16	chr1:56002200-56002600	Flanking Active TSS	NHDF-Ad	bronchial
17	chr1:56002200-56002600	Enhancers	NHLF	lung
18	chr1:56002200-56002600	Enhancers	Osteobl	bone
19	chr1:56002200-56005400	Weak transcription	Right Atrium	heart
20	chr1:56002400-56002600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:56002400-56002600	Active TSS	Rectal Smooth Muscle	rectum
22	chr1:56002400-56005200	Weak transcription	Fetal Muscle Leg	muscle

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