Variant report

Variant	rs17665033
Chromosome Location	chr15:40260946-40260947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40251187..40253303-chr15:40260460..40262818,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12899649	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12912442	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17664969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17720383	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17720451	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17720604	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17720724	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17720930	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17720964	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17721122	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17721366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513040	0.81[EUR][1000 genomes]
rs35647585	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923846	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56319775	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67654473	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7176881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72729460	0.90[AMR][1000 genomes];0.90[EUR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 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	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
2	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:40230000-40263000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr15:40230400-40261600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:40231000-40268400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:40232000-40261400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:40232000-40262600	Strong transcription	Liver	Liver
10	chr15:40235000-40263000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
12	chr15:40238000-40277800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:40238600-40268200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:40238600-40272200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:40238800-40273200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:40239400-40261200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:40239400-40262000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:40239600-40261400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40239800-40262200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr15:40240200-40261000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:40240800-40268000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:40241000-40268600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:40241200-40272600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:40241400-40262800	Strong transcription	Fetal Intestine Large	intestine
25	chr15:40243200-40262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:40245600-40262000	Strong transcription	HSMM	muscle
27	chr15:40246000-40261000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:40247400-40261800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:40248800-40264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:40250000-40263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:40250800-40265800	Weak transcription	K562	blood
35	chr15:40252800-40262200	Strong transcription	Osteobl	bone
36	chr15:40252800-40262800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:40253000-40273200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:40253000-40273800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:40253200-40262200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:40253200-40273200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr15:40253400-40261000	Strong transcription	NH-A	brain
42	chr15:40253400-40262000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:40253600-40262200	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr15:40253800-40262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:40254000-40268400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:40254200-40262600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:40254600-40262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:40256400-40263400	Strong transcription	Primary T cells from cord blood	blood
49	chr15:40256600-40261000	Strong transcription	Fetal Stomach	stomach
50	chr15:40257000-40261000	Strong transcription	Primary hematopoietic stem cells	blood

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