Variant report

Variant	rs72805574
Chromosome Location	chr2:62714835-62714836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56037065	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59967862	0.81[AMR][1000 genomes]
rs6722434	1.00[EUR][1000 genomes]
rs72805580	0.83[EUR][1000 genomes]
rs72805591	0.83[EUR][1000 genomes]
rs72883592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885210	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv2751	chr2:62691264-62737131	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62703600-62724800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:62705800-62732200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:62706600-62726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:62712200-62715400	Enhancers	Ovary	ovary
5	chr2:62713400-62716200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:62713400-62716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:62713400-62732400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:62713600-62716400	Weak transcription	NH-A	brain
9	chr2:62713800-62716200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:62713800-62716400	Weak transcription	HSMMtube	muscle
11	chr2:62714000-62715000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:62714000-62715800	Weak transcription	Osteobl	bone
13	chr2:62714000-62716000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:62714000-62716000	Weak transcription	NHEK	skin
15	chr2:62714000-62716200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:62714000-62716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:62714000-62716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:62714000-62716200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:62714000-62716600	Enhancers	Liver	Liver
20	chr2:62714000-62718600	Weak transcription	Esophagus	oesophagus
21	chr2:62714000-62728000	Weak transcription	Brain Anterior Caudate	brain
22	chr2:62714200-62715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:62714200-62716000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:62714200-62716200	Weak transcription	HepG2	liver
25	chr2:62714200-62716400	Weak transcription	A549	lung
26	chr2:62714200-62717200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:62714200-62732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:62714400-62715200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:62714400-62715800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:62714400-62716000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:62714400-62728400	Weak transcription	HMEC	breast
32	chr2:62714600-62715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:62714600-62715800	Weak transcription	NHDF-Ad	bronchial
34	chr2:62714600-62716000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:62714600-62716000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:62714600-62716000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:62714600-62716000	Weak transcription	Fetal Lung	lung
38	chr2:62714600-62716000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:62714600-62716000	Weak transcription	Fetal Stomach	stomach
40	chr2:62714600-62716000	Weak transcription	Right Atrium	heart
41	chr2:62714600-62716200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:62714600-62716200	Weak transcription	Adipose Nuclei	Adipose
43	chr2:62714600-62716400	Weak transcription	Fetal Kidney	kidney
44	chr2:62714800-62716000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:62714800-62716200	Weak transcription	Stomach Smooth Muscle	stomach

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