Variant report

Variant	rs2568534
Chromosome Location	chr5:57078867-57078868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57076424..57079221-chr5:57153690..57156496,2	MCF-7	breast:
2	chr5:57076851..57079934-chr5:57754416..57757350,4	MCF-7	breast:
3	chr5:57077792..57079742-chr5:57748468..57750917,2	MCF-7	breast:
4	chr5:57077135..57082051-chr5:57753020..57756988,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12519846	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1347072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432477	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816391	0.83[ASN][1000 genomes]
rs1835876	0.83[ASN][1000 genomes]
rs2053013	0.83[ASN][1000 genomes]
rs2215813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2539731	0.83[AFR][1000 genomes]
rs2539732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2539734	1.00[ASN][1000 genomes]
rs2568533	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2568535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898030	0.83[ASN][1000 genomes]
rs2898031	0.82[ASN][1000 genomes]
rs35483666	0.83[ASN][1000 genomes]
rs4700229	0.83[ASN][1000 genomes]
rs4700230	0.83[ASN][1000 genomes]
rs6892809	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs757635	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854025	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854026	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854027	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854030	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs854032	0.99[ASN][1000 genomes]
rs854034	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs887868	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57072600-57079600	Weak transcription	Ovary	ovary
2	chr5:57075400-57080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:57076400-57079200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:57076400-57079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:57076400-57079400	Weak transcription	Aorta	Aorta
6	chr5:57076400-57080200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:57076400-57081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:57076600-57079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:57076600-57079000	Weak transcription	Fetal Lung	lung
10	chr5:57076600-57079600	Weak transcription	Right Atrium	heart
11	chr5:57076600-57079600	Weak transcription	HMEC	breast
12	chr5:57077000-57079400	Weak transcription	HUVEC	blood vessel
13	chr5:57077000-57080000	Weak transcription	Stomach Mucosa	stomach
14	chr5:57077200-57079400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:57077400-57079000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:57077800-57079000	Enhancers	Adipose Nuclei	Adipose
17	chr5:57078200-57079000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:57078200-57079200	Enhancers	Placenta	Placenta
19	chr5:57078200-57079200	Enhancers	HSMM	muscle
20	chr5:57078600-57079000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:57078600-57079200	Enhancers	NHDF-Ad	bronchial
22	chr5:57078800-57079000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:57078800-57079000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:57078800-57079000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:57078800-57079000	Enhancers	Stomach Smooth Muscle	stomach
26	chr5:57078800-57079000	Enhancers	Osteobl	bone
27	chr5:57078800-57079200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:57078800-57079200	Enhancers	HSMMtube	muscle
29	chr5:57078800-57079400	Enhancers	Brain Anterior Caudate	brain
30	chr5:57078800-57079600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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