Variant report

Variant	rs36011854
Chromosome Location	chr2:40739378-40739379
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10490255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1072384	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12991033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997023	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12997042	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13002045	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13012895	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13014062	0.87[AMR][1000 genomes]
rs13017279	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13017846	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13019501	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13020186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020198	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020531	0.89[AMR][1000 genomes]
rs13026826	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13026982	0.85[AMR][1000 genomes]
rs13028820	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029763	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17026051	0.92[AMR][1000 genomes]
rs17026071	0.84[AMR][1000 genomes]
rs17026106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17026114	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17026131	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17026148	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17026152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17026155	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17026156	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098477	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2098478	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193563	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2193565	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2373886	0.91[AFR][1000 genomes]
rs34076394	0.89[AMR][1000 genomes]
rs34766086	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34923862	0.89[AMR][1000 genomes]
rs35014850	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35139526	0.89[AMR][1000 genomes]
rs35450971	0.98[ASN][1000 genomes]
rs35455710	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35537386	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796079	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3796080	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4952415	0.89[AMR][1000 genomes]
rs4952632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60079242	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61181649	0.87[AMR][1000 genomes]
rs67014132	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71426871	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71441106	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71441107	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40734800-40740600	Active TSS	Right Atrium	heart
2	chr2:40736000-40740000	Active TSS	Right Ventricle	heart
3	chr2:40736800-40740200	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:40737200-40739600	ZNF genes & repeats	Fetal Heart	heart
5	chr2:40737400-40740200	Active TSS	Colon Smooth Muscle	Colon
6	chr2:40737600-40739600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:40737600-40740000	Active TSS	Rectal Smooth Muscle	rectum
8	chr2:40738200-40739600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:40738400-40739400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40738600-40739400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40738600-40739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:40738600-40739800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:40738600-40739800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40738600-40739800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:40738600-40739800	Flanking Active TSS	Hela-S3	cervix
16	chr2:40738600-40739800	Flanking Active TSS	HUVEC	blood vessel
17	chr2:40738600-40740000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr2:40738600-40740200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:40738600-40741600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:40738800-40739400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:40738800-40739400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:40738800-40739400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:40738800-40739400	Active TSS	Fetal Muscle Trunk	muscle
24	chr2:40738800-40739400	Active TSS	Fetal Stomach	stomach
25	chr2:40738800-40739400	Active TSS	Osteobl	bone
26	chr2:40738800-40739600	Active TSS	Brain Angular Gyrus	brain
27	chr2:40738800-40739600	Active TSS	Brain Hippocampus Middle	brain
28	chr2:40738800-40739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:40738800-40739600	Active TSS	Fetal Intestine Small	intestine
30	chr2:40738800-40739600	Active TSS	Psoas Muscle	Psoas
31	chr2:40738800-40739800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:40738800-40739800	Active TSS	Aorta	Aorta
33	chr2:40738800-40739800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:40738800-40739800	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:40738800-40739800	Active TSS	Fetal Kidney	kidney
36	chr2:40738800-40739800	Active TSS	Left Ventricle	heart
37	chr2:40738800-40739800	Active TSS	Ovary	ovary
38	chr2:40738800-40740000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr2:40738800-40741000	Active TSS	Primary B cells from cord blood	blood
40	chr2:40739000-40739400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:40739000-40739400	Active TSS	Brain Anterior Caudate	brain
42	chr2:40739000-40739400	Active TSS	Brain Cingulate Gyrus	brain
43	chr2:40739000-40739400	Flanking Active TSS	Fetal Brain Female	brain
44	chr2:40739000-40739400	Active TSS	Fetal Intestine Large	intestine
45	chr2:40739000-40739400	Flanking Active TSS	Fetal Lung	lung
46	chr2:40739000-40739400	Active TSS	NHDF-Ad	bronchial
47	chr2:40739000-40739400	Bivalent Enhancer	NHEK	skin
48	chr2:40739000-40739600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:40739000-40739600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr2:40739000-40739600	Flanking Active TSS	Fetal Brain Male	brain

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