Variant report

Variant	rs2137007
Chromosome Location	chr5:90594264-90594265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90592976..90595970-chr5:90596272..90598046,2	K562	blood:
2	chr5:90586245..90589226-chr5:90591363..90594603,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10057046	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462494	0.93[ASN][1000 genomes]
rs10462495	0.93[ASN][1000 genomes]
rs13356765	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048453	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048454	0.90[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs2973460	0.81[CEU][hapmap]
rs4916706	0.86[CHB][hapmap]
rs4916707	0.85[CHB][hapmap]
rs4916853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916854	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4916857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6877420	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6880312	0.93[ASN][1000 genomes]
rs7341005	0.81[CEU][hapmap]
rs7704529	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7705128	0.85[CHB][hapmap]
rs7712260	0.90[CEU][hapmap]
rs7721772	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7727557	0.93[ASN][1000 genomes]
rs7732832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9293562	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9293564	0.94[EUR][1000 genomes];0.97[ASN][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90589800-90607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90591800-90594400	Enhancers	NHDF-Ad	bronchial
3	chr5:90592800-90595400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:90592800-90595600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:90592800-90598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:90593000-90596600	Weak transcription	Placenta	Placenta
7	chr5:90593000-90597200	Weak transcription	Adipose Nuclei	Adipose
8	chr5:90593000-90597800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:90593000-90597800	Weak transcription	Right Atrium	heart
10	chr5:90593000-90598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90593000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:90593000-90602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:90593000-90606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:90593000-90607000	Weak transcription	Left Ventricle	heart
15	chr5:90593000-90607000	Weak transcription	HSMMtube	muscle
16	chr5:90593200-90597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:90593200-90597200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:90593200-90597200	Weak transcription	A549	lung
19	chr5:90593200-90601800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:90593200-90601800	Weak transcription	HMEC	breast
21	chr5:90593400-90597000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:90593400-90597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:90593400-90597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:90593400-90597200	Weak transcription	Osteobl	bone
25	chr5:90593800-90596200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:90594000-90601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:90594200-90597000	Weak transcription	Hela-S3	cervix

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