Variant report

Variant	rs34714561
Chromosome Location	chr8:125567677-125567678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
2	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
3	chr8:125566782..125568415-chr8:125579586..125582316,2	K562	blood:
4	chr8:125566051..125568002-chr8:125591636..125593613,2	K562	blood:
5	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272486	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1131024	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13250890	0.82[EUR][1000 genomes]
rs13254054	0.82[EUR][1000 genomes]
rs13263130	0.84[EUR][1000 genomes]
rs13264071	0.82[EUR][1000 genomes]
rs13269215	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13276295	0.82[EUR][1000 genomes]
rs17298010	0.82[EUR][1000 genomes]
rs34008273	0.81[EUR][1000 genomes]
rs34115246	0.82[EUR][1000 genomes]
rs34681068	0.94[EUR][1000 genomes]
rs34684627	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35135081	0.84[EUR][1000 genomes]
rs35309726	0.82[EUR][1000 genomes]
rs35419095	0.82[EUR][1000 genomes]
rs4358788	0.82[EUR][1000 genomes]
rs4457314	0.81[EUR][1000 genomes]
rs4535724	0.82[EUR][1000 genomes]
rs4540394	0.82[EUR][1000 genomes]
rs7010902	0.94[EUR][1000 genomes]
rs7813473	0.81[EUR][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	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
2	nsv465801	chr8:125565328-125576681	Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv612145	chr8:125565328-125576681	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34714561	TRMT12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
6	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
8	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
9	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
12	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125554400-125568200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:125554400-125568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:125554400-125569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
18	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
19	chr8:125554600-125568000	Strong transcription	Rectal Smooth Muscle	rectum
20	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr8:125554800-125569200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr8:125555000-125568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:125555200-125569000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
27	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
29	chr8:125555400-125568200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:125555600-125574200	Strong transcription	Primary T cells from cord blood	blood
31	chr8:125556000-125574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:125556200-125575000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:125557000-125568000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:125557000-125568600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:125557000-125569200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:125557000-125572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
39	chr8:125558200-125568600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:125558200-125573600	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:125558400-125569200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr8:125558800-125573200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:125559000-125568600	Strong transcription	Brain Angular Gyrus	brain
44	chr8:125559000-125572600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:125559200-125572400	Strong transcription	Lung	lung
46	chr8:125560400-125575000	Weak transcription	Right Atrium	heart
47	chr8:125561200-125572800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:125561200-125575200	Strong transcription	HepG2	liver
49	chr8:125561400-125568400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:125561400-125568600	Strong transcription	Left Ventricle	heart

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