Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39345165..39347327-chr14:39348361..39351300,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1547051	0.81[EUR][1000 genomes]
rs1547052	0.81[EUR][1000 genomes]
rs1570167	0.81[EUR][1000 genomes]
rs1957050	0.83[EUR][1000 genomes]
rs1957054	0.81[EUR][1000 genomes]
rs1957056	0.81[EUR][1000 genomes]
rs2415518	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571877	0.83[EUR][1000 genomes]
rs762007	0.84[EUR][1000 genomes]
rs8013494	0.86[EUR][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39339000-39350200	Weak transcription	Brain Anterior Caudate	brain
2	chr14:39347000-39351600	Enhancers	Brain Hippocampus Middle	brain
3	chr14:39349400-39350800	Enhancers	Fetal Lung	lung
4	chr14:39349600-39350200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:39349600-39350200	Enhancers	Left Ventricle	heart
6	chr14:39349600-39350400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr14:39349600-39350400	Enhancers	Spleen	Spleen
8	chr14:39349600-39350400	Bivalent Enhancer	HepG2	liver
9	chr14:39349600-39350600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:39349600-39350600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:39349800-39350600	Genic enhancers	Brain Substantia Nigra	brain
12	chr14:39349800-39350800	Enhancers	Fetal Stomach	stomach
13	chr14:39349800-39351200	Enhancers	HUVEC	blood vessel
14	chr14:39349800-39351600	Enhancers	Adipose Nuclei	Adipose
15	chr14:39350000-39350200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:39350000-39350400	Enhancers	Placenta	Placenta
17	chr14:39350000-39350600	Enhancers	Small Intestine	intestine
18	chr14:39350000-39350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:39350000-39350800	Enhancers	Fetal Intestine Large	intestine
20	chr14:39350000-39350800	Enhancers	Fetal Kidney	kidney

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