Variant report

Variant	rs73759361
Chromosome Location	chr5:59899953-59899954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56147294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56814521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913390	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759329	1.00[AMR][1000 genomes]
rs73759337	1.00[AMR][1000 genomes]
rs73759359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759371	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59873000-59908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59873000-59908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:59873200-59911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:59875400-59911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:59884800-59909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:59889000-59900800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:59889200-59900600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:59889200-59900800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:59889400-59911000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:59890200-59911000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:59890400-59901600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:59891000-59911200	Weak transcription	Fetal Intestine Large	intestine
14	chr5:59891200-59909200	Weak transcription	HMEC	breast
15	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:59892000-59912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:59893000-59911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:59894000-59900400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:59894000-59906000	Weak transcription	Osteobl	bone
20	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
21	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
22	chr5:59896800-59900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:59897200-59900200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:59897600-59902200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:59897600-59907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:59898400-59900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:59898400-59901400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:59898400-59902400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:59898600-59900000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:59898800-59907200	Weak transcription	GM12878-XiMat	blood
31	chr5:59899000-59901800	Strong transcription	Placenta	Placenta
32	chr5:59899000-59905800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:59899200-59910400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:59899400-59907200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:59899400-59907600	Weak transcription	Dnd41	blood
36	chr5:59899400-59910800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:59899400-59912600	Weak transcription	Fetal Thymus	thymus
38	chr5:59899400-59928000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:59899600-59901400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:59899600-59902000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:59899600-59907200	Weak transcription	K562	blood
42	chr5:59899600-59908600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:59899600-59909000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:59899600-59910000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:59899800-59924800	Weak transcription	HepG2	liver

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