Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr3:132976946-132978213	SK-N-SH	brain:	n/a	chr3:132977284-132977291 chr3:132977285-132977295
2	GATA3	chr3:132976968-132977754	SK-N-SH	brain:	n/a	chr3:132977377-132977386 chr3:132977377-132977384 chr3:132977376-132977386
3	FOSL2	chr3:132977065-132977750	SK-N-SH	brain:	n/a	chr3:132977535-132977546 chr3:132977585-132977597
4	GATA3	chr3:132977022-132977792	SK-N-SH	brain:	n/a	chr3:132977377-132977386 chr3:132977377-132977384 chr3:132977376-132977386
5	PBX3	chr3:132977058-132977762	SK-N-SH	brain:	n/a	n/a
6	EP300	chr3:132976977-132977723	SK-N-SH	brain:	n/a	chr3:132977390-132977406
7	TCF12	chr3:132976999-132977748	SK-N-SH	brain:	n/a	chr3:132977284-132977291 chr3:132977285-132977295
8	PBX3	chr3:132977059-132977682	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:132972367..132974641-chr3:132976452..132979083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251011	TF binding region

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

rs_ID	r²[population]
rs11914347	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1197280	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1398761	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1513369	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1708388	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1795109	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1849504	0.87[AMR][1000 genomes]
rs1913283	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2048628	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2370047	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2370049	0.84[AFR][1000 genomes]
rs2699871	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2887728	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4298040	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4498042	0.93[YRI][hapmap]
rs4618219	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6439397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439399	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6768513	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7613727	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7624059	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs938233	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][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	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv980103	chr3:132975869-132988869	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132957200-132981400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:132968000-132984200	Weak transcription	Psoas Muscle	Psoas
3	chr3:132974800-132980400	Weak transcription	Fetal Brain Male	brain
4	chr3:132975600-132977800	Enhancers	Osteobl	bone
5	chr3:132975600-132979200	Enhancers	NHEK	skin
6	chr3:132975600-132979600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:132975800-132977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:132976000-132981200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:132976400-132987000	Weak transcription	Fetal Lung	lung
10	chr3:132977200-132982200	Weak transcription	HSMM	muscle
11	chr3:132977200-132983800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:132977400-132979600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:132977400-132986800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:132977600-132978200	Enhancers	Pancreatic Islets	Pancreatic Islet

Quick Search: