Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205317294..205319471-chr2:205340816..205343787,2	K562	blood:
2	chr2:205341764..205344115-chr2:205410157..205412057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10490267	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1156249	0.84[EUR][1000 genomes]
rs12990859	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13001546	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003798	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13005161	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13007075	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13010221	0.87[AMR][1000 genomes]
rs13021097	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13024043	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1447488	0.80[EUR][1000 genomes]
rs1447490	0.84[EUR][1000 genomes]
rs1550909	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17637637	0.87[AMR][1000 genomes]
rs17637778	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34157021	0.83[AMR][1000 genomes]
rs34368384	0.83[AMR][1000 genomes]
rs34816339	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35071164	0.83[AMR][1000 genomes]
rs35207649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60341493	0.84[ASN][1000 genomes]
rs71427747	0.83[AMR][1000 genomes]
rs71427751	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71427753	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921163	0.96[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1012465	chr2:205335630-205349444	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	4 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	chr2:205337400-205344000	Weak transcription	K562	blood
2	chr2:205338200-205350400	Weak transcription	NHLF	lung
3	chr2:205340600-205344000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:205340800-205342800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:205341400-205342400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:205341400-205342600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205341400-205345200	Weak transcription	Fetal Kidney	kidney
8	chr2:205341400-205345800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:205341400-205348400	Weak transcription	HSMMtube	muscle
10	chr2:205341600-205344200	Weak transcription	Osteobl	bone
11	chr2:205341600-205351400	Weak transcription	Aorta	Aorta
12	chr2:205341800-205342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205342200-205342400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:205342200-205342600	Flanking Active TSS	NHEK	skin

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