Variant report

Variant	rs55910451
Chromosome Location	chr10:5794652-5794653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1046393	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1129614	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11920	0.83[AMR][1000 genomes]
rs1858446	0.80[AFR][1000 genomes]
rs2275774	0.82[EUR][1000 genomes]
rs2890364	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3793707	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45575338	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4748572	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55837307	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56033057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58859669	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59007376	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7095103	0.80[ASN][1000 genomes]
rs72772354	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72772355	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72772358	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72772376	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72772390	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72774070	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72774075	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72774077	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72774078	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74116316	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55910451	GDI2	Cis_1M	lymphoblastoid	RTeQTL
rs55910451	GDI2	cis	Whole Blood	GTEx
rs55910451	GDI2	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:5762600-5843400	Strong transcription	Dnd41	blood
3	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
7	chr10:5779000-5804600	Strong transcription	A549	lung
8	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
10	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:5781600-5796200	Strong transcription	Fetal Muscle Leg	muscle
12	chr10:5781600-5796400	Strong transcription	Placenta	Placenta
13	chr10:5783400-5796600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:5784800-5799400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
17	chr10:5785800-5796800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
19	chr10:5788000-5795000	Strong transcription	GM12878-XiMat	blood
20	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr10:5789200-5795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:5789200-5795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:5789200-5798600	Weak transcription	Brain Angular Gyrus	brain
24	chr10:5789200-5799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:5789200-5804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:5789400-5798600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr10:5790200-5795800	Strong transcription	Primary T cells from cord blood	blood
28	chr10:5790400-5798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:5790600-5798400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:5790600-5800200	Weak transcription	Fetal Brain Male	brain
31	chr10:5790800-5798600	Weak transcription	Brain Substantia Nigra	brain
32	chr10:5790800-5799000	Weak transcription	HSMMtube	muscle
33	chr10:5790800-5799200	Weak transcription	HUVEC	blood vessel
34	chr10:5791000-5798600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:5791200-5798000	Weak transcription	HMEC	breast
36	chr10:5791200-5799200	Weak transcription	Small Intestine	intestine
37	chr10:5791400-5798400	Weak transcription	Colonic Mucosa	Colon
38	chr10:5791400-5798600	Weak transcription	Fetal Kidney	kidney
39	chr10:5791400-5798600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr10:5791400-5798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:5791600-5798400	Weak transcription	Psoas Muscle	Psoas
42	chr10:5791600-5798600	Weak transcription	Brain Germinal Matrix	brain
43	chr10:5791600-5798600	Weak transcription	Left Ventricle	heart
44	chr10:5791600-5798600	Weak transcription	Ovary	ovary
45	chr10:5791800-5798200	Weak transcription	Hela-S3	cervix
46	chr10:5791800-5799000	Weak transcription	NHEK	skin
47	chr10:5792000-5795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:5792000-5798600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr10:5792000-5799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:5792000-5799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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