Variant report

Variant	rs11781704
Chromosome Location	chr8:119928249-119928250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119927571..119930099-chr8:119939839..119941774,2	MCF-7	breast:
2	chr8:119424882..119426911-chr8:119926050..119928623,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164761	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1023968	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs13340559	0.81[ASN][1000 genomes]
rs1485308	1.00[CHB][hapmap]
rs17757600	0.80[ASN][1000 genomes]
rs1963992	0.93[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35617243	0.84[ASN][1000 genomes]
rs6469786	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469787	0.82[EUR][1000 genomes]
rs6987473	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6987559	0.90[CHB][hapmap];0.92[CHD][hapmap];0.91[MEX][hapmap]
rs72680366	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680370	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680375	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820642	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7834745	0.85[EUR][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	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
2	nsv8383	chr8:119926155-119934422	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119920600-119929200	Enhancers	HSMM	muscle
2	chr8:119921200-119929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:119925200-119929200	Enhancers	Hela-S3	cervix
4	chr8:119926800-119928400	Weak transcription	HSMMtube	muscle
5	chr8:119926800-119928400	Weak transcription	NH-A	brain
6	chr8:119926800-119928800	Weak transcription	NHLF	lung
7	chr8:119926800-119934600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:119927000-119928400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:119927000-119928600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119927000-119928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119927000-119928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:119927000-119928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:119927000-119928800	Weak transcription	HMEC	breast
14	chr8:119927000-119935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:119927000-119935600	Weak transcription	Osteobl	bone
16	chr8:119927200-119928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:119927200-119928600	Weak transcription	NHDF-Ad	bronchial
18	chr8:119927200-119928800	Weak transcription	NHEK	skin
19	chr8:119927200-119936400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:119927400-119941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:119927800-119928400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:119928200-119929200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:119928200-119936200	Weak transcription	Fetal Intestine Large	intestine

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