Variant report

Variant	rs73303813
Chromosome Location	chr17:17864802-17864803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs16960767	1.00[AMR][1000 genomes]
rs16960818	1.00[AMR][1000 genomes]
rs56054716	1.00[AMR][1000 genomes]
rs56153053	1.00[AMR][1000 genomes]
rs56160247	1.00[AMR][1000 genomes]
rs56232485	1.00[AMR][1000 genomes]
rs56928492	1.00[AMR][1000 genomes]
rs57082481	1.00[AMR][1000 genomes]
rs57277459	1.00[AMR][1000 genomes]
rs57791826	1.00[AMR][1000 genomes]
rs58219643	1.00[AMR][1000 genomes]
rs58376085	1.00[AMR][1000 genomes]
rs58676524	1.00[AMR][1000 genomes]
rs58936409	1.00[AMR][1000 genomes]
rs61050785	1.00[AMR][1000 genomes]
rs61060916	1.00[AMR][1000 genomes]
rs61188141	1.00[AMR][1000 genomes]
rs61256737	1.00[AMR][1000 genomes]
rs7218054	1.00[AMR][1000 genomes]
rs7218246	1.00[AMR][1000 genomes]
rs7218594	1.00[AMR][1000 genomes]
rs7221934	1.00[AMR][1000 genomes]
rs7224621	1.00[AMR][1000 genomes]
rs73297834	1.00[AMR][1000 genomes]
rs73297855	1.00[AMR][1000 genomes]
rs73297868	1.00[AMR][1000 genomes]
rs73299861	1.00[AMR][1000 genomes]
rs73299873	1.00[AMR][1000 genomes]
rs73299892	1.00[AMR][1000 genomes]
rs73301827	1.00[AMR][1000 genomes]
rs73301859	1.00[AMR][1000 genomes]
rs73301894	1.00[AMR][1000 genomes]
rs73303812	1.00[AMR][1000 genomes]
rs73303833	1.00[AMR][1000 genomes]
rs73303854	1.00[AMR][1000 genomes]
rs73303856	1.00[AMR][1000 genomes]
rs73303857	1.00[AMR][1000 genomes]
rs73305952	1.00[AMR][1000 genomes]
rs73979211	1.00[AMR][1000 genomes]
rs73979217	1.00[AMR][1000 genomes]
rs73979243	1.00[AMR][1000 genomes]
rs73981076	1.00[AMR][1000 genomes]
rs8066528	1.00[AMR][1000 genomes]
rs8066865	1.00[AMR][1000 genomes]
rs8078368	1.00[AMR][1000 genomes]
rs8078811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17862000-17866400	Weak transcription	K562	blood
2	chr17:17862200-17874000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:17862400-17868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:17862400-17874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:17862600-17868600	Weak transcription	Esophagus	oesophagus
6	chr17:17862800-17866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:17863000-17866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:17863200-17868600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:17863400-17866400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:17863400-17874000	Weak transcription	NH-A	brain
11	chr17:17863600-17865000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:17863600-17866400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17863600-17866400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:17863600-17866400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr17:17863600-17867200	Weak transcription	Fetal Kidney	kidney
16	chr17:17863600-17869800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:17863600-17873800	Weak transcription	HSMMtube	muscle
18	chr17:17863800-17865000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:17863800-17865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:17863800-17866400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:17863800-17866400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:17863800-17867000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr17:17863800-17867800	Weak transcription	Ovary	ovary
24	chr17:17863800-17868200	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:17863800-17868200	Weak transcription	Right Atrium	heart
26	chr17:17863800-17868400	Weak transcription	Right Ventricle	heart
27	chr17:17863800-17869400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:17863800-17869800	Weak transcription	Fetal Thymus	thymus
29	chr17:17863800-17871800	Weak transcription	Fetal Brain Male	brain
30	chr17:17863800-17872800	Weak transcription	Brain Germinal Matrix	brain
31	chr17:17863800-17873800	Weak transcription	Fetal Muscle Leg	muscle
32	chr17:17863800-17873800	Weak transcription	Thymus	Thymus
33	chr17:17863800-17874400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr17:17864000-17866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:17864000-17866400	Weak transcription	Brain Hippocampus Middle	brain
36	chr17:17864000-17866400	Weak transcription	Psoas Muscle	Psoas
37	chr17:17864000-17866400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr17:17864000-17866800	Weak transcription	Left Ventricle	heart
39	chr17:17864000-17867000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:17864000-17867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:17864000-17867400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:17864000-17868000	Weak transcription	Fetal Stomach	stomach
43	chr17:17864000-17868200	Weak transcription	Lung	lung
44	chr17:17864000-17868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:17864000-17868600	Weak transcription	Liver	Liver
46	chr17:17864000-17868600	Weak transcription	Gastric	stomach
47	chr17:17864000-17868600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr17:17864000-17870400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr17:17864000-17873800	Weak transcription	HSMM	muscle
50	chr17:17864000-17874200	Weak transcription	Placenta	Placenta

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