Variant report

Variant	rs4130891
Chromosome Location	chr8:119921354-119921355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119921054..119923444-chr8:119928585..119930805,2	MCF-7	breast:
2	chr8:119918415..119920059-chr8:119920188..119921715,2	MCF-7	breast:
3	chr8:119921061..119923064-chr8:119931822..119933473,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10505346	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10505349	0.89[ASN][1000 genomes]
rs10955911	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955912	0.89[ASN][1000 genomes]
rs11573838	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs11573896	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11573939	0.82[EUR][1000 genomes]
rs11573959	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11984630	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs11997782	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1485288	0.89[ASN][1000 genomes]
rs1493943	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs17757532	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs17758204	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs1994276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2875845	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3134048	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4073354	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61470971	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67132155	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72680365	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680377	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv891415	chr8:119886923-119921354	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4130891	EIF3H	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119914000-119922200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:119918200-119922000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:119918200-119922200	Weak transcription	NH-A	brain
4	chr8:119918200-119922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:119918200-119922400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:119918400-119921800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:119918600-119921800	Weak transcription	Osteobl	bone
8	chr8:119918600-119926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:119918800-119921400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:119918800-119922000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:119918800-119922000	Weak transcription	NHLF	lung
12	chr8:119918800-119922200	Weak transcription	HMEC	breast
13	chr8:119918800-119922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:119918800-119922600	Weak transcription	NHEK	skin
15	chr8:119919000-119922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:119919000-119922600	Weak transcription	Hela-S3	cervix
17	chr8:119919200-119922400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:119920600-119929200	Enhancers	HSMM	muscle
19	chr8:119921000-119927000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:119921200-119927200	Enhancers	NHDF-Ad	bronchial
21	chr8:119921200-119929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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