Variant report

No.	Distal block	Cell Line	Cell type
1	7:126363704-126365622..7:127070190-127076279	Hela-S3	cervix:
2	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
3	chr7:126359092..126361580-chr7:126364293..126366745,2	K562	blood:
4	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:
5	chr7:126363919..126365530-chr7:126368922..126370814,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1008905	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1024417	0.87[ASN][1000 genomes]
rs1024418	0.94[ASN][1000 genomes]
rs10279616	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12667118	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13243112	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1579214	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1815973	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237765	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283068	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283069	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299492	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299497	0.87[ASN][1000 genomes]
rs2299498	0.87[ASN][1000 genomes]
rs2896374	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34261190	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35009695	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808152	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808153	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824011	0.87[ASN][1000 genomes]
rs4728051	0.87[ASN][1000 genomes]
rs4731321	1.00[EUR][1000 genomes];0.96[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	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126342000-126367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:126363800-126364600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:126363800-126364600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:126363800-126364800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:126364000-126364600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:126364000-126364800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:126364200-126364400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:126364200-126364600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:126364200-126364800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:126364200-126364800	Enhancers	HUVEC	blood vessel

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