Variant report

Variant	rs4871044
Chromosome Location	chr8:121158773-121158774
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	chr8:121158106..121160330-chr8:121170327..121173169,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10101000	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108373	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10110722	0.83[ASW][hapmap]
rs1051534	0.83[ASW][hapmap];0.83[CHD][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap]
rs10738134	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955951	0.81[YRI][hapmap]
rs10955953	0.96[CEU][hapmap];0.88[CHD][hapmap];0.93[TSI][hapmap]
rs11787175	0.91[ASW][hapmap];0.83[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs11787250	0.91[ASW][hapmap];0.83[CHD][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs11988495	0.83[AFR][1000 genomes]
rs11995866	1.00[YRI][hapmap]
rs12546625	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680859	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs35529075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4282615	0.85[CEU][hapmap];0.89[CHD][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4336644	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4407920	0.85[CEU][hapmap];0.88[CHD][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs4407921	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4633103	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4871039	0.96[EUR][1000 genomes]
rs4871042	0.88[EUR][1000 genomes]
rs4871043	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871827	0.85[CHD][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs6469898	0.96[CEU][hapmap];0.88[CHD][hapmap]
rs6469899	0.96[CEU][hapmap];0.88[CHD][hapmap];0.93[TSI][hapmap]
rs66488706	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6980708	1.00[YRI][hapmap]
rs6996015	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7001214	1.00[CEU][hapmap]
rs7459865	0.82[AFR][1000 genomes]
rs7460965	0.95[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817016	1.00[YRI][hapmap]
rs7827219	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7833689	0.80[CHD][hapmap]
rs7834024	0.96[CEU][hapmap]
rs9297614	0.96[CEU][hapmap]
rs9969405	0.96[CEU][hapmap]
rs9969477	0.96[CEU][hapmap];0.88[CHD][hapmap];0.93[TSI][hapmap]
rs9969584	1.00[CEU][hapmap];0.88[CHD][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871044	MTBP	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121152400-121165400	Weak transcription	Ovary	ovary
2	chr8:121153800-121160800	Weak transcription	Fetal Lung	lung
3	chr8:121154600-121173800	Weak transcription	Fetal Stomach	stomach
4	chr8:121154600-121175200	Weak transcription	Aorta	Aorta
5	chr8:121155000-121160800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:121155400-121170600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:121158600-121161200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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