Variant report

Variant	rs7006363
Chromosome Location	chr8:121496149-121496150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121490309..121492059-chr8:121495586..121498161,2	K562	blood:
2	chr8:121490559..121492639-chr8:121494219..121497086,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.84[ASN][1000 genomes]
rs11778778	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781130	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781698	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11786027	0.96[ASN][1000 genomes]
rs11989221	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994578	0.96[ASN][1000 genomes]
rs12675851	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678944	0.94[ASN][1000 genomes]
rs12680935	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162236	0.96[ASN][1000 genomes]
rs35511242	0.95[ASN][1000 genomes]
rs35761432	0.96[ASN][1000 genomes]
rs35895310	0.86[ASN][1000 genomes]
rs4870728	0.86[ASN][1000 genomes]
rs4870730	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.96[ASN][1000 genomes]
rs55695515	0.98[ASN][1000 genomes]
rs57481340	0.97[ASN][1000 genomes]
rs59967069	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7004427	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821312	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7825296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7826746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7835199	0.86[ASN][1000 genomes]
rs7839548	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7006363	MTBP	cis	cerebellum	SCAN
rs7006363	MRPL13	cis	cerebellum	SCAN
rs7006363	MTBP	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
3	chr8:121458400-121501000	Weak transcription	Ovary	ovary
4	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
7	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:121458800-121510400	Weak transcription	NHLF	lung
9	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:121468600-121501800	Weak transcription	HUVEC	blood vessel
12	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:121470000-121502400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:121477800-121503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:121480000-121501000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:121481800-121501600	Weak transcription	Fetal Stomach	stomach
18	chr8:121482600-121503800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:121483400-121501600	Weak transcription	Primary B cells from cord blood	blood
20	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
21	chr8:121486000-121500400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:121486400-121499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:121486800-121501000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:121487400-121500400	Weak transcription	Dnd41	blood
25	chr8:121487400-121500800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:121487600-121512200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:121488400-121539200	Weak transcription	HSMM	muscle
28	chr8:121489200-121500000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:121491400-121500800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:121491400-121501600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:121493400-121500400	Weak transcription	HepG2	liver
33	chr8:121493600-121502200	Weak transcription	Gastric	stomach
34	chr8:121493600-121506400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:121495600-121501000	Weak transcription	Primary T cells from cord blood	blood

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