Variant report

Variant	rs12720761
Chromosome Location	chr2:21266605-21266606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55899854	1.00[AMR][1000 genomes]
rs56300790	1.00[AMR][1000 genomes]
rs56362198	1.00[AMR][1000 genomes]
rs56370608	1.00[AMR][1000 genomes]
rs57300286	1.00[AMR][1000 genomes]
rs58233853	1.00[AMR][1000 genomes]
rs58480104	1.00[AMR][1000 genomes]
rs59771269	1.00[AMR][1000 genomes]
rs59952985	1.00[AMR][1000 genomes]
rs73918012	1.00[AMR][1000 genomes]
rs73918091	1.00[AMR][1000 genomes]
rs73918094	1.00[AMR][1000 genomes]
rs73918095	1.00[AMR][1000 genomes]
rs73918098	1.00[AMR][1000 genomes]
rs73918099	1.00[AMR][1000 genomes]
rs73918100	1.00[AMR][1000 genomes]
rs73918101	1.00[AMR][1000 genomes]
rs73918102	1.00[AMR][1000 genomes]
rs73919803	1.00[AMR][1000 genomes]
rs73919804	1.00[AMR][1000 genomes]
rs73919805	1.00[AMR][1000 genomes]
rs73919806	1.00[AMR][1000 genomes]
rs73919807	1.00[AMR][1000 genomes]
rs73919810	1.00[AMR][1000 genomes]
rs73920458	1.00[AMR][1000 genomes]
rs73921327	1.00[AMR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21263600-21267200	Active TSS	Duodenum Mucosa	Duodenum
2	chr2:21265200-21268400	Enhancers	Spleen	Spleen
3	chr2:21265400-21267200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:21265400-21267200	Active TSS	Fetal Intestine Large	intestine
5	chr2:21265800-21267000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:21265800-21267200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:21265800-21267200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:21265800-21267200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:21265800-21267200	Active TSS	Liver	Liver
10	chr2:21265800-21267600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr2:21266000-21266800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:21266000-21266800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr2:21266000-21266800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:21266000-21266800	Active TSS	Brain Substantia Nigra	brain
15	chr2:21266000-21266800	Active TSS	Ovary	ovary
16	chr2:21266000-21267000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:21266000-21267000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:21266000-21267000	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr2:21266000-21267000	Enhancers	Gastric	stomach
20	chr2:21266000-21267000	Enhancers	Pancreas	Pancrea
21	chr2:21266000-21267000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr2:21266000-21267000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:21266000-21267200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr2:21266000-21267200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:21266000-21267200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:21266000-21267200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:21266000-21267200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr2:21266000-21267200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:21266000-21268400	Enhancers	Lung	lung
30	chr2:21266200-21267000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:21266200-21267400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:21266200-21267400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:21266400-21266800	Active TSS	Right Atrium	heart
34	chr2:21266400-21267000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:21266400-21267000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:21266400-21267000	Active TSS	Fetal Intestine Small	intestine
37	chr2:21266400-21267000	Enhancers	Left Ventricle	heart
38	chr2:21266400-21267200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr2:21266400-21267200	Active TSS	HepG2	liver
40	chr2:21266400-21267400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr2:21266400-21267800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr2:21266600-21266800	Active TSS	Brain Cingulate Gyrus	brain
43	chr2:21266600-21266800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr2:21266600-21266800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr2:21266600-21266800	Flanking Active TSS	Psoas Muscle	Psoas
46	chr2:21266600-21266800	Flanking Active TSS	Right Ventricle	heart
47	chr2:21266600-21267000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:21266600-21267000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:21266600-21267000	Active TSS	Adipose Nuclei	Adipose
50	chr2:21266600-21267200	Bivalent Enhancer	Brain Germinal Matrix	brain

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