Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:224873427..224876593-chr1:224880376..224882893,3	K562	blood:
2	chr1:224874309..224876593-chr1:224880376..224882878,2	K562	blood:
3	chr1:224874942..224876608-chr1:224877645..224880078,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10429870	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915687	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10915698	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs10916655	0.85[CEU][hapmap]
rs1369847	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1436169	0.90[ASN][1000 genomes]
rs1436172	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs169888	0.84[JPT][hapmap]
rs2050626	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2050627	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2405516	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897161	0.89[CHB][hapmap];0.89[CHD][hapmap]
rs298733	0.88[CHD][hapmap]
rs298735	0.93[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs298739	0.92[ASN][1000 genomes]
rs2993124	0.92[ASN][1000 genomes]
rs3012185	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4653402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4653404	0.90[ASN][1000 genomes]
rs4653591	0.89[ASN][1000 genomes]
rs4653592	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9919286	0.85[CEU][hapmap]

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	chr1:224861200-224876800	Weak transcription	Ovary	ovary
3	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
4	chr1:224864000-224876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:224869800-224877200	Weak transcription	Dnd41	blood
6	chr1:224871400-224876400	Strong transcription	NHDF-Ad	bronchial
7	chr1:224871800-224884600	Weak transcription	Fetal Brain Female	brain
8	chr1:224873000-224876800	Weak transcription	Fetal Brain Male	brain
9	chr1:224873000-224884800	Weak transcription	NHLF	lung
10	chr1:224873200-224877000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224873400-224884200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:224874400-224876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:224875000-224881600	Weak transcription	NH-A	brain
14	chr1:224875200-224879400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:224875400-224876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:224875600-224888400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:224876000-224877000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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