Variant report

Variant	rs13278704
Chromosome Location	chr8:121428590-121428591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10089714	0.92[AFR][1000 genomes]
rs10090842	0.82[AFR][1000 genomes]
rs10097612	0.83[AFR][1000 genomes]
rs10102004	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10103515	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10110599	0.84[AMR][1000 genomes]
rs11534106	0.92[AFR][1000 genomes]
rs11984927	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12543724	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12544060	0.92[AFR][1000 genomes]
rs12545343	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12546191	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12548577	0.86[AFR][1000 genomes]
rs12548799	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12549257	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12549483	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12549554	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12675768	0.84[AFR][1000 genomes]
rs12681110	0.83[AFR][1000 genomes]
rs13248998	0.81[AMR][1000 genomes]
rs13250411	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13250736	0.81[AFR][1000 genomes]
rs13252848	0.93[AFR][1000 genomes]
rs13255475	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13256253	0.89[AFR][1000 genomes]
rs13258079	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13267496	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13268205	0.92[AFR][1000 genomes]
rs13268539	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13269329	0.81[AFR][1000 genomes]
rs13278395	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13279029	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35648205	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3924785	0.83[AFR][1000 genomes]
rs4132023	0.81[AFR][1000 genomes]
rs4132316	0.81[AFR][1000 genomes]
rs4242314	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4300045	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4310246	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4379488	0.85[AMR][1000 genomes]
rs4380980	0.83[AMR][1000 genomes]
rs4431630	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4471090	0.89[AFR][1000 genomes]
rs4486250	0.82[AMR][1000 genomes]
rs4537340	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4548223	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4573323	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4604482	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4634687	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4637891	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4644304	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4644305	0.82[AMR][1000 genomes]
rs4870731	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56099013	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61675238	0.83[AFR][1000 genomes]
rs6469930	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6469934	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6650	0.93[AFR][1000 genomes]
rs6980923	0.81[EUR][1000 genomes]
rs7000801	0.80[AMR][1000 genomes]
rs7001860	0.83[AFR][1000 genomes]
rs7003420	0.81[AFR][1000 genomes]
rs7004725	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7005391	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7015268	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7015843	0.81[AFR][1000 genomes]
rs7017154	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7815522	0.82[AFR][1000 genomes]
rs7819820	0.81[EUR][1000 genomes]
rs7820316	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7822421	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7842992	0.83[AFR][1000 genomes]
rs9297616	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9642849	0.92[AFR][1000 genomes]
rs9642851	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9643145	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9643146	0.85[AMR][1000 genomes]
rs9649950	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13278704	MTBP	cis	brain	BrainEAC

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
5	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:121407800-121442800	Weak transcription	NHEK	skin
8	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
9	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
11	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:121410600-121456600	Weak transcription	Gastric	stomach
14	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
15	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
20	chr8:121413400-121428600	Strong transcription	Dnd41	blood
21	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
25	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
26	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
27	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
28	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:121417000-121455800	Weak transcription	NHLF	lung
30	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
31	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
32	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
36	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
37	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:121417800-121428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:121417800-121440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:121417800-121440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:121418000-121441000	Weak transcription	Fetal Lung	lung
45	chr8:121418000-121450400	Weak transcription	A549	lung
46	chr8:121419400-121435600	Weak transcription	NH-A	brain
47	chr8:121421200-121432400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr8:121421600-121429200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:121423400-121431000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:121423600-121429200	Weak transcription	HepG2	liver

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