Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182622819..182625911-chr2:182627931..182631069,3	K562	blood:
2	chr2:182621687..182624059-chr2:182624829..182627289,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167581	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10169250	1.00[EUR][1000 genomes]
rs10171629	0.90[AFR][1000 genomes]
rs10201303	0.90[YRI][hapmap]
rs10203440	0.88[YRI][hapmap];0.90[AFR][1000 genomes]
rs11885643	1.00[EUR][1000 genomes]
rs13391733	0.88[YRI][hapmap];0.80[AFR][1000 genomes]
rs13395564	1.00[EUR][1000 genomes]
rs13396152	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs13401364	0.80[AFR][1000 genomes]
rs13404156	0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs1528024	0.89[YRI][hapmap]
rs1528025	0.91[YRI][hapmap]
rs1528027	0.91[YRI][hapmap]
rs16867498	0.91[YRI][hapmap]
rs6433942	1.00[EUR][1000 genomes]
rs6707164	0.89[YRI][hapmap]
rs6720109	0.91[YRI][hapmap]
rs6736766	0.89[YRI][hapmap]
rs6741761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757190	1.00[EUR][1000 genomes]
rs7582121	1.00[EUR][1000 genomes]
rs7600976	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs964700	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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182616800-182631000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:182619400-182625200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:182619800-182629000	Weak transcription	Stomach Mucosa	stomach
4	chr2:182624800-182627000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:182625000-182625200	Enhancers	Brain Substantia Nigra	brain
6	chr2:182625000-182625400	Enhancers	Fetal Kidney	kidney
7	chr2:182625000-182625600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:182625000-182625800	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:182625000-182627000	Enhancers	Brain Hippocampus Middle	brain

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