Variant report

Variant	rs73285780
Chromosome Location	chr14:39526861-39526862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2415530	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56920377	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57095311	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146995	0.83[AMR][1000 genomes]
rs7155918	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156098	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285770	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287665	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73287682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014205	0.83[AMR][1000 genomes]
rs8014508	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8014887	0.86[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39518800-39527000	Strong transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:39519600-39527000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr14:39519600-39529400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:39520200-39528000	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr14:39521200-39529800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:39521200-39535600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:39523000-39527000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:39523000-39527000	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr14:39523000-39527400	ZNF genes & repeats	Dnd41	blood
10	chr14:39523200-39527000	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr14:39523200-39527400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr14:39523200-39529600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:39523400-39527400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr14:39523600-39527000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr14:39523600-39527000	ZNF genes & repeats	Lung	lung
16	chr14:39523600-39528000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr14:39523800-39527000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:39523800-39540200	Weak transcription	Psoas Muscle	Psoas
19	chr14:39524000-39528600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:39524000-39529200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr14:39524200-39527000	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr14:39524200-39527000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:39524200-39527000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr14:39524200-39527400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:39524200-39527400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr14:39524200-39527400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr14:39524200-39527400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr14:39524200-39527400	ZNF genes & repeats	Fetal Brain Female	brain
29	chr14:39524200-39527400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr14:39524200-39529000	ZNF genes & repeats	GM12878-XiMat	blood
31	chr14:39524200-39529400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr14:39524200-39529600	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr14:39524400-39527000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:39524400-39527000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr14:39524400-39527000	ZNF genes & repeats	Fetal Muscle Leg	muscle
36	chr14:39524400-39527000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
37	chr14:39524400-39527000	ZNF genes & repeats	Thymus	Thymus
38	chr14:39524400-39527400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
39	chr14:39524400-39527600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr14:39524400-39528200	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr14:39524400-39529200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr14:39524600-39527000	ZNF genes & repeats	Placenta	Placenta
43	chr14:39524600-39527400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr14:39524800-39527000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:39524800-39527000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr14:39524800-39527000	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr14:39524800-39527000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
48	chr14:39524800-39527000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr14:39524800-39527000	ZNF genes & repeats	NHEK	skin
50	chr14:39524800-39527400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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