Variant report

Variant	rs1040588
Chromosome Location	chr20:23040430-23040431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23033798..23035725-chr20:23039013..23041466,2	MCF-7	breast:
2	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
3	chr20:23039939..23042121-chr20:23116423..23118513,2	K562	blood:
4	chr20:23030229..23033770-chr20:23036359..23041230,6	K562	blood:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1821119	0.90[EUR][1000 genomes]
rs1835702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1835703	0.86[EUR][1000 genomes]
rs1835704	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998079	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1998080	0.89[EUR][1000 genomes]
rs2007743	0.83[CHB][hapmap];0.87[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144939	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2207110	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2255937	0.84[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424503	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424509	0.82[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424510	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424511	0.90[EUR][1000 genomes]
rs2567619	0.91[EUR][1000 genomes]
rs2749813	0.89[EUR][1000 genomes]
rs2749817	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6036291	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048519	0.83[EUR][1000 genomes]
rs6048526	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048533	0.91[EUR][1000 genomes]
rs6076016	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6082997	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083000	0.80[AMR][1000 genomes];0.89[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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23032600-23041800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:23032800-23041400	Weak transcription	Spleen	Spleen
3	chr20:23038400-23046600	Enhancers	Fetal Lung	lung
4	chr20:23039600-23043400	Enhancers	Dnd41	blood
5	chr20:23039800-23040600	Enhancers	HSMMtube	muscle
6	chr20:23039800-23046000	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23040000-23042400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:23040200-23041400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:23040200-23041600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr20:23040200-23041800	Enhancers	HSMM	muscle
11	chr20:23040200-23042400	Enhancers	Lung	lung
12	chr20:23040200-23043600	Enhancers	Placenta	Placenta
13	chr20:23040200-23043800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:23040200-23043800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr20:23040200-23046800	Enhancers	Fetal Stomach	stomach
16	chr20:23040400-23040600	Enhancers	Fetal Muscle Trunk	muscle
17	chr20:23040400-23041000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:23040400-23041200	Enhancers	K562	blood
19	chr20:23040400-23042000	Enhancers	Aorta	Aorta
20	chr20:23040400-23042000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr20:23040400-23043200	Enhancers	Brain Substantia Nigra	brain
22	chr20:23040400-23043400	Enhancers	Adipose Nuclei	Adipose
23	chr20:23040400-23043600	Enhancers	Left Ventricle	heart
24	chr20:23040400-23043600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr20:23040400-23044400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr20:23040400-23044600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:23040400-23044800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr20:23040400-23044800	Enhancers	HUVEC	blood vessel

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