Variant report

Variant	rs4871499
Chromosome Location	chr8:125554166-125554167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125554001-125554733	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125485971..125490407-chr8:125553790..125556730,4	MCF-7	breast:
2	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
3	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:
4	chr8:125550700..125556653-chr8:126010348..126014681,6	K562	blood:
5	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
6	chr8:125552236..125554783-chr8:125637109..125639947,2	MCF-7	breast:
7	chr4:83293458..83295359-chr8:125553294..125555708,2	MCF-7	breast:
8	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
9	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:

No data

Variant related genes	Relation type
NDUFB9	TF binding region
TATDN1	TF binding region
ENSG00000245149	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000138668	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10091243	0.80[EUR][1000 genomes]
rs10092569	0.83[EUR][1000 genomes]
rs10106292	0.80[EUR][1000 genomes]
rs11991829	0.83[EUR][1000 genomes]
rs4269525	0.80[EUR][1000 genomes]
rs4269526	0.80[EUR][1000 genomes]
rs6982197	0.81[EUR][1000 genomes]
rs6987343	0.81[EUR][1000 genomes]
rs7007115	0.83[EUR][1000 genomes]
rs7009290	0.80[EUR][1000 genomes]
rs7812331	0.82[EUR][1000 genomes]
rs7827791	0.80[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4871499	TRMT12	Cis_1M	lymphoblastoid	RTeQTL
rs4871499	TRMT12	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552000-125554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:125552000-125555400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:125552000-125557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125552200-125555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:125552200-125555200	Weak transcription	Aorta	Aorta
6	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
7	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:125552400-125554200	Weak transcription	Fetal Thymus	thymus
10	chr8:125552400-125554400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:125552400-125554400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:125552400-125554400	Weak transcription	Gastric	stomach
13	chr8:125552400-125554400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:125552400-125554400	Weak transcription	Spleen	Spleen
15	chr8:125552400-125554600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:125552400-125554600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:125552400-125554600	Weak transcription	Left Ventricle	heart
18	chr8:125552400-125554600	Weak transcription	Ovary	ovary
19	chr8:125552400-125554800	Weak transcription	HSMMtube	muscle
20	chr8:125552400-125555200	Weak transcription	Placenta	Placenta
21	chr8:125552400-125555400	Weak transcription	Colonic Mucosa	Colon
22	chr8:125552600-125554200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:125552600-125554400	Weak transcription	Osteobl	bone
24	chr8:125552600-125554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:125552600-125554600	Weak transcription	NH-A	brain
26	chr8:125552600-125555200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:125552600-125555400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:125552600-125556400	Weak transcription	Stomach Mucosa	stomach
29	chr8:125552800-125554600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:125552800-125554600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:125552800-125554600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:125552800-125554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:125552800-125554800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:125552800-125555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:125552800-125555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:125553000-125554600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:125553000-125554600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:125553000-125554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:125553000-125554600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:125553000-125554600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:125553000-125554800	Weak transcription	Brain Anterior Caudate	brain
42	chr8:125553000-125554800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:125553000-125554800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:125553000-125555200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:125553000-125555200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:125553000-125555200	Weak transcription	Fetal Kidney	kidney
47	chr8:125553000-125555400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:125553000-125558800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:125553200-125554200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:125553200-125554200	Weak transcription	Primary monocytes fromperipheralblood	blood

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