Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:209742200-209742350	GM12868	blood:	n/a	n/a
2	CTCF	chr1:209742220-209742370	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:209742300-209742450	HVMF	connective:	n/a	n/a
4	CTCF	chr1:209742220-209742370	HMEC	breast:	n/a	n/a
5	CTCF	chr1:209742220-209742370	AG10803	skin:	n/a	n/a
6	CTCF	chr1:209742220-209742370	BJ	skin:	n/a	n/a
7	CTCF	chr1:209742200-209742350	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209742263..209743556-chr1:209920676..209921449,8	K562	blood:

Variant related genes	Relation type
ENSG00000224260	TF binding region

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11119313	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11801272	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12402938	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12408760	0.89[EUR][1000 genomes]
rs12734177	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235449	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235452	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235453	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235454	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235455	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35104617	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35498535	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35503098	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35508847	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55814069	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74157978	0.98[ASN][1000 genomes]
rs74157980	0.98[ASN][1000 genomes]
rs7517804	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7517839	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553120	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9787069	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209738400-209743000	Weak transcription	Fetal Kidney	kidney
2	chr1:209739600-209743000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:209739800-209743000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:209741000-209742400	Enhancers	HMEC	breast
5	chr1:209741200-209743000	Weak transcription	Osteobl	bone
6	chr1:209741200-209743200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:209741200-209743600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:209741400-209743400	Enhancers	NHEK	skin
9	chr1:209741600-209743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:209741600-209743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:209741600-209743000	Weak transcription	HSMM	muscle
12	chr1:209741800-209743000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:209741800-209743000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:209742000-209742400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:209742000-209743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:209742000-209743000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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