Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:
2	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
3	chr7:50490774..50493016-chr7:50493621..50495493,2	K562	blood:
4	chr7:50491516..50493659-chr7:50493993..50496799,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10230343	0.86[JPT][hapmap]
rs10235796	0.84[EUR][1000 genomes]
rs10249420	0.84[CHB][hapmap]
rs10271341	0.84[CHB][hapmap]
rs10276473	0.84[CHB][hapmap]
rs11575320	0.84[CHB][hapmap]
rs12538151	0.87[EUR][1000 genomes]
rs1466164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060761	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060762	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329371	0.84[CHB][hapmap]
rs3735273	0.89[CHB][hapmap]
rs3735275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779078	0.84[CHB][hapmap]
rs3807552	0.84[CHB][hapmap]
rs3807555	0.85[CHB][hapmap]
rs3807556	0.84[CHB][hapmap]
rs4515495	0.97[ASN][1000 genomes]
rs4618649	0.90[EUR][1000 genomes]
rs4947410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947437	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947510	0.86[JPT][hapmap]
rs6950777	0.84[CHB][hapmap]
rs6965721	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7384694	0.83[EUR][1000 genomes]
rs7790230	0.86[JPT][hapmap]
rs7790758	0.87[YRI][hapmap]
rs7803440	0.84[CHB][hapmap]
rs7803788	0.84[CHB][hapmap]
rs896309	0.84[CHB][hapmap]
rs963739	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9942686	0.82[CHB][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6593336	FIGNL1	cis	Adipose Subcutaneous	GTEx
rs6593336	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs6593336	FIGNL1	cis	Nerve Tibial	GTEx
rs6593336	FIGNL1	cis	lung	GTEx
rs6593336	FIGNL1	cis	Artery Tibial	GTEx
rs6593336	FIGNL1	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50486600-50495000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:50491400-50493400	Enhancers	Fetal Thymus	thymus
4	chr7:50491600-50492000	Enhancers	Primary B cells from peripheral blood	blood

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