Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75804511..75807217-chr1:75808092..75810770,2	K562	blood:
2	chr1:75802617..75804536-chr1:75804779..75807311,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1249658	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1249671	1.00[EUR][1000 genomes]
rs1249673	1.00[EUR][1000 genomes]
rs1249832	1.00[AMR][1000 genomes]
rs1249833	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1249834	1.00[AMR][1000 genomes]
rs1249835	1.00[AMR][1000 genomes]
rs1249844	0.92[YRI][hapmap]
rs1313029	1.00[EUR][1000 genomes]
rs1768544	1.00[EUR][1000 genomes]
rs1778444	1.00[EUR][1000 genomes]
rs211746	1.00[EUR][1000 genomes]
rs211753	1.00[EUR][1000 genomes]
rs211770	1.00[EUR][1000 genomes]
rs211773	1.00[EUR][1000 genomes]
rs639331	1.00[EUR][1000 genomes]
rs6670185	1.00[EUR][1000 genomes]
rs72988778	1.00[EUR][1000 genomes]
rs7514894	1.00[EUR][1000 genomes]
rs7556215	1.00[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	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013952	chr1:75716654-75936048	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv535004	chr1:75716654-75936048	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75803400-75806800	Enhancers	Fetal Brain Female	brain
2	chr1:75803600-75807800	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:75804200-75806400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:75804400-75806200	Enhancers	Brain Germinal Matrix	brain
5	chr1:75804800-75807200	Enhancers	Adipose Nuclei	Adipose
6	chr1:75804800-75807600	Enhancers	GM12878-XiMat	blood
7	chr1:75805000-75806400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:75805000-75808200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:75805000-75808200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:75805200-75807600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:75805200-75808000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:75805200-75808000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:75805400-75806200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:75805400-75807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:75805600-75806400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:75805800-75807400	Enhancers	Fetal Brain Male	brain
17	chr1:75806000-75806400	Enhancers	K562	blood

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