Variant report

Variant	rs28495399
Chromosome Location	chr7:124702292-124702293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124701709..124702473-chr7:124956278..124956931,2	MCF-7	breast:
2	chr7:124701246..124703610-chr7:124820642..124822320,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10429002	0.86[EUR][1000 genomes]
rs56027755	0.86[EUR][1000 genomes]
rs56201984	0.86[EUR][1000 genomes]
rs56814856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57238558	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58951741	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59925676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60625314	0.86[EUR][1000 genomes]
rs60905609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61037807	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61043257	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61227096	0.86[EUR][1000 genomes]
rs61429625	0.86[EUR][1000 genomes]
rs61449025	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61484079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598567	0.86[EUR][1000 genomes]
rs66597683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66613685	0.86[EUR][1000 genomes]
rs66712671	0.86[EUR][1000 genomes]
rs67066083	0.86[EUR][1000 genomes]
rs67211225	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67449341	0.86[EUR][1000 genomes]
rs67501403	0.86[EUR][1000 genomes]
rs67504575	0.86[EUR][1000 genomes]
rs67573953	0.86[EUR][1000 genomes]
rs67617850	0.86[EUR][1000 genomes]
rs67652374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68032029	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73227528	0.86[EUR][1000 genomes]
rs73432438	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr7:124699800-124702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:124699800-124703400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:124700600-124702800	Enhancers	HUVEC	blood vessel
4	chr7:124700600-124703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:124700800-124702400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:124700800-124702400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:124700800-124702400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:124701000-124702800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:124701000-124703000	Enhancers	Hela-S3	cervix
10	chr7:124701200-124703400	Weak transcription	Brain Substantia Nigra	brain
11	chr7:124701400-124702400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:124701400-124702600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:124701400-124702600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:124701600-124703000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:124701800-124702400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:124701800-124702600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:124701800-124702600	Enhancers	HMEC	breast
18	chr7:124702000-124702400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:124702000-124702400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:124702000-124702400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:124702000-124702400	Enhancers	HSMMtube	muscle
22	chr7:124702000-124702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:124702000-124702600	Enhancers	NHEK	skin
24	chr7:124702200-124702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:124702200-124703200	Weak transcription	Brain Angular Gyrus	brain
26	chr7:124702200-124703200	Weak transcription	NH-A	brain
27	chr7:124702200-124706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:124702200-124712200	Weak transcription	Placenta Amnion	Placenta Amnion

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