Variant report

Variant	rs567249
Chromosome Location	chr15:43728963-43728964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs2245161	1.00[AMR][1000 genomes]
rs2264048	0.81[AFR][1000 genomes]
rs2264051	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444248	1.00[AMR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes]
rs2601019	1.00[AMR][1000 genomes]
rs28370962	1.00[AMR][1000 genomes]
rs492046	1.00[AMR][1000 genomes]
rs509037	1.00[AMR][1000 genomes]
rs559805	1.00[AMR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes]
rs59083674	1.00[AMR][1000 genomes]
rs690262	1.00[AMR][1000 genomes]
rs7173990	1.00[AMR][1000 genomes]
rs74009133	1.00[AMR][1000 genomes]
rs933942	1.00[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	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:43687000-43732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:43687600-43731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
12	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:43703600-43731400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:43713200-43729600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:43714400-43733000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
21	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
22	chr15:43719200-43732400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:43719400-43731800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr15:43719800-43730200	Weak transcription	Hela-S3	cervix
25	chr15:43719800-43732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:43719800-43733000	Weak transcription	A549	lung
27	chr15:43720400-43730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:43720400-43730000	Weak transcription	NHEK	skin
29	chr15:43720600-43730000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:43721600-43731800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:43721600-43732200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:43721600-43740200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:43721800-43732000	Strong transcription	Primary T cells from cord blood	blood
34	chr15:43722000-43732400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:43722000-43740000	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:43722600-43733400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr15:43724600-43729200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:43724800-43729000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:43724800-43729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:43724800-43729600	Weak transcription	HepG2	liver
41	chr15:43724800-43729600	Weak transcription	NHLF	lung
42	chr15:43724800-43730000	Weak transcription	Liver	Liver
43	chr15:43724800-43738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:43724800-43738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:43725000-43729000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:43725000-43729000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:43725000-43729200	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:43725000-43729600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr15:43725000-43729600	Weak transcription	Aorta	Aorta
50	chr15:43725000-43729600	Weak transcription	Fetal Brain Male	brain

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