Variant report

Variant	rs13394823
Chromosome Location	chr2:55229339-55229340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55228082..55231303-chr2:55231498..55236378,7	K562	blood:
2	chr2:55228095..55231014-chr2:55462298..55463930,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10084445	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10170102	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10175952	0.86[AMR][1000 genomes]
rs10179491	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10180207	0.81[AFR][1000 genomes]
rs10181115	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10191684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10191748	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10197533	0.82[AMR][1000 genomes]
rs10198096	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10207701	0.86[AMR][1000 genomes]
rs11125554	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13385999	0.92[AMR][1000 genomes]
rs13387710	0.86[AMR][1000 genomes]
rs13394824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401937	0.82[AFR][1000 genomes]
rs17046567	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17046569	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34928331	0.91[AFR][1000 genomes]
rs3806572	0.81[AFR][1000 genomes]
rs60989108	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6725187	0.92[AMR][1000 genomes]
rs72912579	0.86[AMR][1000 genomes]
rs7584992	0.92[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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv874155	chr2:55205262-55307646	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55191800-55234200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:55198200-55237200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55203800-55258400	Weak transcription	Esophagus	oesophagus
4	chr2:55211200-55232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55214200-55234400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:55214400-55232800	Weak transcription	Fetal Brain Female	brain
7	chr2:55214800-55230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:55214800-55231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:55214800-55234200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:55214800-55236800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:55215200-55234200	Weak transcription	Dnd41	blood
12	chr2:55219400-55233400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:55220400-55236800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:55223000-55237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:55224600-55229400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:55224800-55230200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:55224800-55231000	Weak transcription	Small Intestine	intestine
18	chr2:55224800-55236800	Enhancers	A549	lung
19	chr2:55225200-55234600	Enhancers	Liver	Liver
20	chr2:55226000-55230800	Enhancers	HUVEC	blood vessel
21	chr2:55226400-55230000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:55226600-55230200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:55226600-55230400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:55226600-55233800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:55226600-55237200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:55226800-55229800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:55226800-55229800	Enhancers	Osteobl	bone
28	chr2:55226800-55231000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:55226800-55235200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:55226800-55236600	Weak transcription	Right Atrium	heart
31	chr2:55226800-55237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:55227000-55230600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:55227000-55232200	Enhancers	NHEK	skin
34	chr2:55227000-55236600	Weak transcription	Brain Germinal Matrix	brain
35	chr2:55227200-55230200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:55227200-55232600	Enhancers	Brain Angular Gyrus	brain
37	chr2:55227200-55233400	Weak transcription	Fetal Thymus	thymus
38	chr2:55227200-55236800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:55227400-55232200	Weak transcription	Fetal Lung	lung
40	chr2:55227400-55236800	Weak transcription	Fetal Brain Male	brain
41	chr2:55227400-55237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:55227600-55229400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:55227600-55229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:55227600-55230600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:55227600-55230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:55227600-55232000	Weak transcription	HepG2	liver
47	chr2:55227600-55232800	Enhancers	NHDF-Ad	bronchial
48	chr2:55227600-55233200	Weak transcription	Primary T cells from cord blood	blood
49	chr2:55227600-55234000	Weak transcription	Stomach Mucosa	stomach
50	chr2:55227600-55236400	Weak transcription	Primary monocytes fromperipheralblood	blood

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