Variant report

Variant	rs17372350
Chromosome Location	chr8:125588934-125588935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505446	0.89[CEU][hapmap]
rs17298759	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298884	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298912	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299030	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299208	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299341	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17372901	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4585740	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470248	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7003602	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830235	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275001	chr8:125584475-125593594	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17372350	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566200-125590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125566400-125600600	Weak transcription	NHEK	skin
4	chr8:125567000-125590200	Weak transcription	Fetal Brain Male	brain
5	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:125574800-125590200	Weak transcription	HMEC	breast
8	chr8:125575400-125589200	Weak transcription	Esophagus	oesophagus
9	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
10	chr8:125575800-125589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:125576600-125591400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:125576800-125590200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:125577200-125591400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:125577400-125589800	Weak transcription	NHLF	lung
16	chr8:125577600-125591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:125577800-125589600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:125577800-125590000	Weak transcription	Osteobl	bone
19	chr8:125578000-125598600	Weak transcription	Gastric	stomach
20	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:125579000-125591400	Weak transcription	HUVEC	blood vessel
22	chr8:125579200-125590200	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:125579400-125589800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
25	chr8:125580600-125590200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:125580600-125590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:125580800-125590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:125581200-125589200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:125581800-125589000	Weak transcription	Brain Germinal Matrix	brain
31	chr8:125582200-125590000	Weak transcription	HepG2	liver
32	chr8:125584000-125589200	Weak transcription	Fetal Stomach	stomach
33	chr8:125584000-125589600	Weak transcription	Fetal Intestine Large	intestine
34	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
35	chr8:125585000-125598400	Strong transcription	Liver	Liver
36	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:125586000-125589200	Weak transcription	Left Ventricle	heart
38	chr8:125586000-125589800	Weak transcription	Right Ventricle	heart
39	chr8:125586000-125593400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:125586400-125590200	Weak transcription	Lung	lung
41	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
42	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr8:125586800-125589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:125586800-125590000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr8:125586800-125590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
48	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
49	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
50	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial

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