Variant report

Variant	rs72807773
Chromosome Location	chr2:56106541-56106542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11680866	1.00[ASN][1000 genomes]
rs3791673	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3791678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55818621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990801	0.86[EUR][1000 genomes]
rs56188784	0.83[AFR][1000 genomes]
rs56358948	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59265286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60772612	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6722453	1.00[ASN][1000 genomes]
rs72805677	1.00[AMR][1000 genomes]
rs72807753	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72807766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807772	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72807774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72807775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72811708	1.00[AMR][1000 genomes]
rs72811720	1.00[AMR][1000 genomes]
rs72811729	1.00[AMR][1000 genomes]
rs72811739	1.00[AMR][1000 genomes]
rs73940332	0.87[AFR][1000 genomes]
rs73940335	0.84[AFR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
2	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
3	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
4	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
5	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
10	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:56097000-56108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:56098000-56107600	Weak transcription	Lung	lung
13	chr2:56098600-56107000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:56101000-56106800	Weak transcription	Fetal Kidney	kidney
15	chr2:56101000-56107600	Weak transcription	Gastric	stomach
16	chr2:56103200-56107400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:56103200-56107600	Weak transcription	Right Atrium	heart
18	chr2:56103200-56108000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:56103400-56110000	Weak transcription	A549	lung
20	chr2:56103600-56106600	Weak transcription	NH-A	brain
21	chr2:56103600-56107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:56103600-56107800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:56103800-56109400	Strong transcription	HSMM	muscle
24	chr2:56104600-56115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:56104800-56107000	Weak transcription	NHLF	lung
26	chr2:56104800-56109000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56104800-56109000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:56105000-56107000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:56105000-56107400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:56105000-56107600	Weak transcription	NHDF-Ad	bronchial
31	chr2:56105000-56110400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:56105000-56112600	Weak transcription	HSMMtube	muscle
33	chr2:56105600-56106800	Weak transcription	Hela-S3	cervix
34	chr2:56105800-56106600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:56105800-56106800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:56105800-56109200	Strong transcription	NHEK	skin
37	chr2:56106000-56107000	Strong transcription	Osteobl	bone
38	chr2:56106000-56108400	Strong transcription	Ovary	ovary
39	chr2:56106200-56108200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:56106200-56108400	Genic enhancers	Aorta	Aorta
41	chr2:56106400-56109000	Strong transcription	HMEC	breast

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