Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:92539244..92540153-chr4:125785568..125786476,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000133639	Chromatin interaction
ENSG00000245904	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10031287	1.00[CHB][hapmap]
rs10518454	1.00[JPT][hapmap]
rs11725383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11726687	0.81[EUR][1000 genomes]
rs11729757	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11729760	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11736122	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17181767	0.81[EUR][1000 genomes]
rs2077965	1.00[YRI][hapmap]
rs2086766	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617665	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59349224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62323269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62323271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323303	0.81[EUR][1000 genomes]
rs6816885	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6843692	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011752	chr4:125708756-125932456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1001338	chr4:125708756-126103293	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830050	chr4:125717858-125888563	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125782400-125786200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:125784000-125787200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:125784000-125788400	Weak transcription	HSMMtube	muscle
4	chr4:125784400-125787400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:125784400-125788000	Weak transcription	Osteobl	bone
6	chr4:125784600-125787200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:125785800-125786600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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