Variant report

Variant	rs62527908
Chromosome Location	chr8:125525305-125525306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125524915..125527776-chr8:125549189..125551788,3	MCF-7	breast:
2	chr8:125457794..125459767-chr8:125524535..125526756,2	K562	blood:
3	chr8:125484436..125485979-chr8:125524895..125526411,2	MCF-7	breast:
4	chr8:125518223..125520836-chr8:125524424..125526418,2	MCF-7	breast:
5	chr8:125516805..125520798-chr8:125521381..125525465,5	MCF-7	breast:
6	chr17:56707829..56710707-chr8:125524267..125526108,2	MCF-7	breast:
7	chr8:125521278..125528092-chr8:125529916..125534521,7	MCF-7	breast:
8	chr8:125487492..125489974-chr8:125525285..125527024,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956184	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956185	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956189	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544211	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12544621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545267	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546906	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12548836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550707	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12550827	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4128469	0.81[EUR][1000 genomes]
rs4512366	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4551335	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4602869	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4870898	0.80[EUR][1000 genomes]
rs5004281	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56942034	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57941917	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527880	0.81[EUR][1000 genomes]
rs62527883	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62527884	0.81[EUR][1000 genomes]
rs62527886	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62527901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62527910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6987213	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6987358	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7009847	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72713049	0.81[EUR][1000 genomes]
rs7830325	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834203	0.81[EUR][1000 genomes]
rs7836802	0.82[EUR][1000 genomes]
rs7845008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62527908	TRMT12	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:125489000-125541200	Weak transcription	Gastric	stomach
4	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
5	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
9	chr8:125500000-125526200	Weak transcription	Colonic Mucosa	Colon
10	chr8:125500000-125538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:125500000-125538400	Weak transcription	Psoas Muscle	Psoas
12	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
13	chr8:125500200-125530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:125500400-125526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125501600-125535000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:125504000-125525800	Weak transcription	NHLF	lung
18	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
19	chr8:125505800-125538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:125506000-125538600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:125508400-125532200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:125510200-125536800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:125510400-125536200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:125510800-125532200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:125511600-125536400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:125512000-125536000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:125512200-125528000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:125512200-125530400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:125512200-125531600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:125512400-125528200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:125512400-125535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:125512400-125536400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:125512600-125531600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125512600-125533800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:125512600-125535600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr8:125512800-125532200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr8:125512800-125535600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:125513200-125532400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:125513200-125535800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:125513400-125528600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:125514400-125529400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:125515600-125532200	Strong transcription	Primary T cells from cord blood	blood
43	chr8:125516200-125526200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:125516200-125527200	Weak transcription	Right Ventricle	heart
45	chr8:125516200-125531200	Weak transcription	Fetal Kidney	kidney
46	chr8:125516200-125537200	Weak transcription	Lung	lung
47	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
48	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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