Variant report

Variant	rs2446440
Chromosome Location	chr8:67132592-67132593
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	chr8:67129093..67131723-chr8:67132358..67134576,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11784558	0.85[ASN][1000 genomes]
rs2446436	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2446437	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2446438	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2446439	0.96[EUR][1000 genomes]
rs2446441	0.85[ASN][1000 genomes]
rs2446444	0.85[ASN][1000 genomes]
rs2446445	0.85[ASN][1000 genomes]
rs2469259	0.85[ASN][1000 genomes]
rs2469260	0.85[ASN][1000 genomes]
rs2469262	0.81[ASN][1000 genomes]
rs2469263	0.81[ASN][1000 genomes]
rs2469271	0.85[ASN][1000 genomes]
rs2469275	0.85[ASN][1000 genomes]
rs2469276	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2469284	0.81[ASN][1000 genomes]
rs2469286	0.81[ASN][1000 genomes]
rs2469287	0.81[ASN][1000 genomes]
rs2469295	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2469296	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2469301	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2469302	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816372	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs954519	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs954520	0.85[AMR][1000 genomes];0.99[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67116800-67135200	Weak transcription	Placenta	Placenta
2	chr8:67118400-67133400	Weak transcription	Liver	Liver
3	chr8:67119600-67135400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:67124600-67133000	Weak transcription	Pancreas	Pancrea
5	chr8:67129400-67133800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:67129600-67133000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:67129600-67133600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:67130400-67133200	Enhancers	Brain Anterior Caudate	brain
9	chr8:67130800-67132800	Enhancers	NH-A	brain
10	chr8:67130800-67135800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:67131400-67132600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:67131400-67132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:67131400-67133800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:67131600-67132600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:67131600-67132800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:67131600-67133200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:67131600-67133400	Enhancers	Fetal Brain Female	brain
18	chr8:67131600-67133400	Enhancers	Fetal Kidney	kidney
19	chr8:67131800-67132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:67131800-67132600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:67132000-67132800	Enhancers	A549	lung
22	chr8:67132000-67135800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:67132200-67132800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:67132200-67133000	Enhancers	Fetal Heart	heart
25	chr8:67132200-67137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:67132400-67132600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:67132400-67132600	Enhancers	Lung	lung
28	chr8:67132400-67133200	Enhancers	Left Ventricle	heart

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