Variant report

Variant	rs11617282
Chromosome Location	chr13:30485146-30485147
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	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
2	chr13:30422892..30425150-chr13:30482194..30486036,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11616365	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616381	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616471	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620544	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61947245	1.00[ASN][1000 genomes]
rs73157126	1.00[ASN][1000 genomes]
rs7997649	1.00[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
3	chr13:30477400-30486000	Weak transcription	Adipose Nuclei	Adipose
4	chr13:30479600-30485200	Enhancers	Hela-S3	cervix
5	chr13:30481000-30485400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30481200-30485800	Weak transcription	Stomach Mucosa	stomach
7	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr13:30482800-30486000	Weak transcription	Gastric	stomach
9	chr13:30483600-30489200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:30484000-30485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:30484000-30485200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:30484800-30485600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:30484800-30486000	Weak transcription	Esophagus	oesophagus
14	chr13:30484800-30486000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr13:30484800-30486000	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:30484800-30486000	Weak transcription	Placenta	Placenta
17	chr13:30484800-30486200	Weak transcription	HSMM	muscle
18	chr13:30484800-30491200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:30484800-30491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:30484800-30492400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:30485000-30486000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr13:30485000-30486000	Weak transcription	NHDF-Ad	bronchial
23	chr13:30485000-30494200	Weak transcription	A549	lung

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