Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11609088..11610648-chr2:11613853..11615915,2	K562	blood:
2	chr2:11612152..11614821-chr2:11616649..11618358,2	K562	blood:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10192676	0.96[CEU][hapmap];0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs10803737	0.93[EUR][1000 genomes]
rs10929741	0.86[EUR][1000 genomes]
rs10929745	0.94[EUR][1000 genomes]
rs10929746	0.95[EUR][1000 genomes]
rs10929747	0.97[EUR][1000 genomes]
rs10929748	0.97[EUR][1000 genomes]
rs10929749	0.97[EUR][1000 genomes]
rs1369500	0.96[CEU][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes]
rs1369501	0.97[EUR][1000 genomes]
rs1369502	0.97[EUR][1000 genomes]
rs1369503	0.97[EUR][1000 genomes]
rs34075853	0.96[EUR][1000 genomes]
rs35047869	0.96[EUR][1000 genomes]
rs35160324	0.96[EUR][1000 genomes]
rs35606161	0.96[EUR][1000 genomes]
rs35734540	0.97[EUR][1000 genomes]
rs35973068	0.96[EUR][1000 genomes]
rs4668726	0.84[ASN][1000 genomes]
rs60323348	0.96[EUR][1000 genomes]
rs60819231	0.96[EUR][1000 genomes]
rs6432195	0.87[EUR][1000 genomes]
rs6432197	0.97[EUR][1000 genomes]
rs6432198	0.97[EUR][1000 genomes]
rs6432201	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6705284	0.97[EUR][1000 genomes]
rs6714698	0.97[EUR][1000 genomes]
rs6719876	0.97[EUR][1000 genomes]
rs6724082	0.97[EUR][1000 genomes]
rs6724463	0.96[CEU][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes]
rs6743597	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs6753836	0.97[EUR][1000 genomes]
rs7565965	0.97[EUR][1000 genomes]
rs7577942	0.97[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11607000-11621200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11607200-11622400	Weak transcription	Spleen	Spleen
3	chr2:11607600-11618000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:11612800-11614800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:11613000-11615200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11613200-11614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11613200-11614800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:11613600-11614800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11613800-11614600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:11613800-11618200	Weak transcription	HepG2	liver
11	chr2:11614000-11618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11614200-11614600	Bivalent Enhancer	Brain Germinal Matrix	brain

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