Variant report

No.	Distal block	Cell Line	Cell type
1	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
2	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
3	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3847988	0.88[EUR][1000 genomes]
rs492404	0.88[EUR][1000 genomes]
rs503010	0.88[EUR][1000 genomes]
rs61947282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61947285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660017	0.88[EUR][1000 genomes]
rs7323424	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs927734	0.88[EUR][1000 genomes]
rs9508593	0.88[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:30485000-30494200	Weak transcription	A549	lung
4	chr13:30491200-30493000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:30491200-30493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:30491600-30492800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:30491600-30493000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:30491800-30492600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:30491800-30493000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:30492400-30493000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30492400-30493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:30492400-30493600	Enhancers	Placenta	Placenta
14	chr13:30492400-30493600	Enhancers	Gastric	stomach
15	chr13:30492400-30493800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:30492400-30493800	Enhancers	Esophagus	oesophagus
17	chr13:30492400-30493800	Enhancers	Pancreas	Pancrea
18	chr13:30492400-30493800	Enhancers	NHEK	skin
19	chr13:30492400-30494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:30492400-30497400	Enhancers	Hela-S3	cervix
21	chr13:30492400-30500600	Enhancers	HMEC	breast

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