Variant report

Variant	rs17020573
Chromosome Location	chr2:37589049-37589050
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	chr2:37585150..37587898-chr2:37588394..37591715,3	MCF-7	breast:
2	chr2:37582825..37585072-chr2:37588211..37589764,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11894772	1.00[CEU][hapmap]
rs11902200	1.00[EUR][1000 genomes]
rs17020307	1.00[CEU][hapmap]
rs17020309	1.00[CEU][hapmap]
rs2058718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2058719	1.00[CEU][hapmap]
rs28548299	1.00[CEU][hapmap]
rs6722596	1.00[EUR][1000 genomes]
rs6756313	1.00[EUR][1000 genomes]
rs72864856	1.00[EUR][1000 genomes]
rs72864858	1.00[EUR][1000 genomes]
rs72864863	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72864877	1.00[EUR][1000 genomes]
rs72864880	1.00[EUR][1000 genomes]
rs72864889	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924611	1.00[EUR][1000 genomes]
rs7557416	1.00[CEU][hapmap]
rs7564929	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7584351	1.00[EUR][1000 genomes]
rs7596533	1.00[EUR][1000 genomes]
rs7603787	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7606760	1.00[EUR][1000 genomes]
rs7606958	1.00[EUR][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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37572600-37595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37577000-37590600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:37577400-37607000	Weak transcription	Spleen	Spleen
4	chr2:37578200-37605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37578400-37604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:37578600-37601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:37578800-37602200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:37579800-37592600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:37579800-37603000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:37580200-37603400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:37581600-37595600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:37583600-37607200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:37588400-37589200	Enhancers	Esophagus	oesophagus
14	chr2:37588400-37589400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37588400-37589400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:37588400-37589600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:37588400-37589600	Enhancers	HMEC	breast
18	chr2:37588400-37589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:37588600-37589200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:37588600-37589200	Enhancers	Right Ventricle	heart
21	chr2:37588600-37589400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:37588600-37590200	Enhancers	Psoas Muscle	Psoas
23	chr2:37588600-37590400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:37588800-37589400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:37588800-37589600	Flanking Active TSS	NHEK	skin
26	chr2:37588800-37589800	Enhancers	Fetal Heart	heart
27	chr2:37589000-37589200	Enhancers	Left Ventricle	heart

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