Variant report

Variant	rs57043258
Chromosome Location	chr8:69672386-69672387
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	chr8:69671516..69674416-chr8:69676691..69679997,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16935048	1.00[ASN][1000 genomes]
rs34207383	1.00[ASN][1000 genomes]
rs57996050	1.00[ASN][1000 genomes]
rs58757685	1.00[ASN][1000 genomes]
rs59404825	1.00[ASN][1000 genomes]
rs60283435	1.00[ASN][1000 genomes]
rs68191047	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999003	1.00[ASN][1000 genomes]
rs71517216	1.00[ASN][1000 genomes]
rs72652153	1.00[ASN][1000 genomes]
rs72668533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73289410	1.00[ASN][1000 genomes]
rs73683711	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73683724	1.00[ASN][1000 genomes]
rs73683725	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890986	chr8:69647914-69704366	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69640200-69676800	Weak transcription	Aorta	Aorta
2	chr8:69670200-69672400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:69670200-69672400	Enhancers	HSMM	muscle
4	chr8:69670200-69672400	Enhancers	NHLF	lung
5	chr8:69671000-69673200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:69671400-69673000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:69671400-69673200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:69671400-69673400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:69671400-69675400	Enhancers	NHDF-Ad	bronchial
10	chr8:69671600-69672800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:69671600-69672800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:69671600-69672800	Enhancers	Fetal Lung	lung
13	chr8:69671600-69673000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:69671600-69673200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:69671600-69673200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:69671600-69673200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:69671600-69673200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:69671600-69673200	Enhancers	HUVEC	blood vessel
19	chr8:69671600-69673400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:69671800-69672400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:69671800-69672800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:69671800-69672800	Enhancers	Fetal Heart	heart
23	chr8:69671800-69673200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:69671800-69673600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:69672000-69672400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:69672000-69672400	Enhancers	Ovary	ovary
27	chr8:69672000-69672400	Flanking Active TSS	A549	lung
28	chr8:69672000-69672600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:69672000-69672800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:69672000-69672800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:69672000-69672800	Flanking Active TSS	NH-A	brain
32	chr8:69672000-69673600	Enhancers	Stomach Mucosa	stomach
33	chr8:69672200-69672600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:69672200-69672600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:69672200-69672600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:69672200-69672600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:69672200-69672600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:69672200-69672600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:69672200-69672600	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:69672200-69672600	Enhancers	Placenta	Placenta
41	chr8:69672200-69672600	Enhancers	Fetal Stomach	stomach
42	chr8:69672200-69672600	Enhancers	Gastric	stomach
43	chr8:69672200-69672600	Flanking Active TSS	NHEK	skin
44	chr8:69672200-69672600	Flanking Active TSS	Osteobl	bone
45	chr8:69672200-69672800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:69672200-69672800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:69672200-69672800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:69672200-69672800	Enhancers	Fetal Muscle Leg	muscle
49	chr8:69672200-69672800	Flanking Active TSS	Hela-S3	cervix
50	chr8:69672200-69672800	Flanking Active TSS	HMEC	breast

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