Variant report

Variant	rs13263962
Chromosome Location	chr8:121430599-121430600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:121430388-121430610	HepG2	liver:	n/a	chr8:121430488-121430499
2	CEBPB	chr8:121430339-121430635	IMR90	lung:	n/a	chr8:121430488-121430499
3	CEBPB	chr8:121430386-121430625	Hela-S3	cervix:	n/a	chr8:121430488-121430499
4	CEBPB	chr8:121430360-121430605	H1-hESC	embryonic stem cell:	n/a	chr8:121430488-121430499
5	CEBPB	chr8:121430337-121430601	K562	blood:	n/a	chr8:121430488-121430499

Variant related genes	Relation type
MRPL13	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098436	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109431	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10955971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1129080	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1129353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11780830	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11781786	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12545308	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12546007	0.99[ASN][1000 genomes]
rs12674727	0.95[ASN][1000 genomes]
rs12675235	0.92[ASN][1000 genomes]
rs12676755	0.92[ASN][1000 genomes]
rs12678531	0.96[ASN][1000 genomes]
rs12678788	0.98[ASN][1000 genomes]
rs12680641	0.92[ASN][1000 genomes]
rs13252173	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16893976	0.95[ASN][1000 genomes]
rs2429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242313	0.96[ASN][1000 genomes]
rs4448321	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4452825	1.00[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4565499	0.96[ASN][1000 genomes]
rs4573322	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4590476	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61203971	0.98[ASN][1000 genomes]
rs61424477	0.83[ASN][1000 genomes]
rs6415474	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6469920	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469921	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6984090	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985660	0.98[ASN][1000 genomes]
rs7002445	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73315165	0.98[ASN][1000 genomes]
rs73315171	0.98[ASN][1000 genomes]
rs73315174	0.96[ASN][1000 genomes]
rs73315182	0.96[ASN][1000 genomes]
rs7812590	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7814949	0.92[ASN][1000 genomes]
rs7818026	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs7819405	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826906	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[ASN][1000 genomes]
rs7832933	0.94[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7835363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9297619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9650081	0.96[EUR][1000 genomes];0.97[ASN][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13263962	MTBP	cis	cerebellum	SCAN
rs13263962	MTBP	cis	parietal	SCAN
rs13263962	ENPP2	cis	parietal	SCAN
rs13263962	ENPP2	cis	cerebellum	SCAN

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	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
24	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
25	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
26	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
27	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:121417000-121455800	Weak transcription	NHLF	lung
29	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
30	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
31	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
35	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
36	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:121417800-121440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:121417800-121440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:121418000-121441000	Weak transcription	Fetal Lung	lung
43	chr8:121418000-121450400	Weak transcription	A549	lung
44	chr8:121419400-121435600	Weak transcription	NH-A	brain
45	chr8:121421200-121432400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:121423400-121431000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:121423600-121450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
49	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
50	chr8:121423600-121456000	Weak transcription	Ovary	ovary

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