Variant report

Variant	rs6993480
Chromosome Location	chr8:99488680-99488681
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	chr8:99488393..99491687-chr8:99492350..99494560,3	MCF-7	breast:
2	chr8:99486023..99488749-chr8:99617770..99619373,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10102594	0.92[CHB][hapmap]
rs10441501	0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs10955177	0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs12056323	0.80[MEX][hapmap]
rs13270534	0.80[MEX][hapmap]
rs1893884	0.80[YRI][hapmap]
rs34094945	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34580087	0.83[EUR][1000 genomes]
rs4130753	0.80[MEX][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs4348458	1.00[ASW][hapmap];0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4388428	0.80[MEX][hapmap];0.80[YRI][hapmap];0.83[EUR][1000 genomes]
rs4734406	0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs4735564	0.80[MEX][hapmap]
rs4995528	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7007360	0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs7011763	0.80[MEX][hapmap];0.80[YRI][hapmap]
rs7013445	0.96[YRI][hapmap]
rs7815227	0.83[YRI][hapmap];0.83[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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6993480	OSR2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99477400-99491400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:99479600-99490000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:99479600-99504600	Weak transcription	NHEK	skin
5	chr8:99479800-99502800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:99480200-99490400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:99480600-99490200	Weak transcription	NHLF	lung
8	chr8:99483200-99490000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:99483800-99489200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:99484800-99489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:99485600-99489000	Weak transcription	NHDF-Ad	bronchial
12	chr8:99485600-99490200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:99485800-99488800	Weak transcription	Osteobl	bone
14	chr8:99485800-99489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:99486200-99489400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:99486400-99490800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:99486400-99491000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:99486600-99489200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
20	chr8:99487800-99488800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:99487800-99489000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:99487800-99489000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:99488000-99489200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:99488200-99491400	Enhancers	HSMMtube	muscle
25	chr8:99488600-99489800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:99488600-99489800	Enhancers	HUVEC	blood vessel
27	chr8:99488600-99490400	Enhancers	Ovary	ovary

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