Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:224883559..224885900-chr1:224887129..224888856,2	K562	blood:
2	chr1:224877858..224879413-chr1:224882608..224884592,2	K562	blood:
3	chr1:224882945..224885447-chr1:224889455..224891684,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12239521	0.96[AFR][1000 genomes]
rs13374273	0.82[YRI][hapmap]
rs13374584	1.00[AMR][1000 genomes]
rs1499284	1.00[AMR][1000 genomes]
rs16849419	1.00[AMR][1000 genomes]
rs16849547	1.00[AMR][1000 genomes]
rs16851979	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16852009	0.82[YRI][hapmap]
rs16852027	0.82[YRI][hapmap]
rs16852032	0.82[YRI][hapmap]
rs56081029	1.00[AMR][1000 genomes]
rs6426149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426151	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6661687	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6676850	1.00[AMR][1000 genomes]
rs6679959	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685335	1.00[YRI][hapmap]
rs6685547	0.82[YRI][hapmap]
rs6690547	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692860	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6694298	0.82[YRI][hapmap]
rs6695061	1.00[YRI][hapmap]
rs74146377	1.00[AMR][1000 genomes]
rs74146381	1.00[AMR][1000 genomes]
rs74146382	1.00[AMR][1000 genomes]
rs74146383	1.00[AMR][1000 genomes]
rs74146386	1.00[AMR][1000 genomes]
rs7513442	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7545558	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7555388	0.88[AFR][1000 genomes]
rs879363	0.82[YRI][hapmap]
rs9661938	1.00[AMR][1000 genomes]
rs9729870	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
3	chr1:224871800-224884600	Weak transcription	Fetal Brain Female	brain
4	chr1:224873000-224884800	Weak transcription	NHLF	lung
5	chr1:224873400-224884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:224875600-224888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224877600-224891600	Weak transcription	Dnd41	blood
8	chr1:224878800-224884200	Weak transcription	Fetal Brain Male	brain
9	chr1:224879400-224884200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:224881000-224885200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:224881400-224895400	Weak transcription	Ovary	ovary
12	chr1:224882200-224884600	Weak transcription	NH-A	brain
13	chr1:224883400-224884600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:224884000-224884200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:224884000-224885800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:224884000-224885800	Enhancers	NHDF-Ad	bronchial
17	chr1:224884000-224887000	Enhancers	Cortex derived primary cultured neurospheres	brain

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