Variant report

Variant	rs17631508
Chromosome Location	chr13:30484523-30484524
allele	C/G
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11616343	1.00[AFR][1000 genomes]
rs11616970	0.89[ASN][1000 genomes]
rs11617644	0.88[ASN][1000 genomes]
rs11618111	0.89[ASN][1000 genomes]
rs11843877	0.89[ASN][1000 genomes]
rs17074015	0.89[ASN][1000 genomes]
rs17074040	1.00[EUR][1000 genomes]
rs2027459	0.89[ASN][1000 genomes]
rs2027460	0.89[ASN][1000 genomes]
rs2031491	0.89[ASN][1000 genomes]
rs2031492	0.89[ASN][1000 genomes]
rs2039948	0.87[ASN][1000 genomes]
rs2039951	0.87[ASN][1000 genomes]
rs34444526	0.89[ASN][1000 genomes]
rs55899549	0.97[EUR][1000 genomes]
rs56144866	0.89[ASN][1000 genomes]
rs60031463	0.88[ASN][1000 genomes]
rs61947281	0.89[ASN][1000 genomes]
rs7994117	0.89[ASN][1000 genomes]
rs912790	0.89[ASN][1000 genomes]
rs912791	0.89[ASN][1000 genomes]
rs912792	0.89[ASN][1000 genomes]
rs927735	0.85[ASN][1000 genomes]
rs9314988	0.87[ASN][1000 genomes]
rs9508589	0.81[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30477000-30484800	Weak transcription	A549	lung
3	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
4	chr13:30477400-30486000	Weak transcription	Adipose Nuclei	Adipose
5	chr13:30479600-30485200	Enhancers	Hela-S3	cervix
6	chr13:30481000-30485400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:30481200-30485800	Weak transcription	Stomach Mucosa	stomach
8	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr13:30481600-30484800	Enhancers	Fetal Muscle Leg	muscle
10	chr13:30481800-30485000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:30481800-30485000	Enhancers	NHDF-Ad	bronchial
12	chr13:30481800-30485000	Enhancers	NHEK	skin
13	chr13:30482200-30484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:30482200-30484800	Enhancers	HSMM	muscle
15	chr13:30482400-30485000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:30482600-30485000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr13:30482800-30486000	Weak transcription	Gastric	stomach
18	chr13:30483200-30484800	Enhancers	Fetal Muscle Trunk	muscle
19	chr13:30483400-30484800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:30483600-30489200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:30483800-30484800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:30483800-30484800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:30483800-30484800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:30483800-30485000	Enhancers	Osteobl	bone
25	chr13:30484000-30484600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:30484000-30484800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:30484000-30484800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:30484000-30484800	Enhancers	Esophagus	oesophagus
29	chr13:30484000-30485000	Enhancers	HMEC	breast
30	chr13:30484000-30485000	Enhancers	NHLF	lung
31	chr13:30484000-30485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:30484000-30485200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:30484200-30484600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:30484200-30484600	Enhancers	Lung	lung
35	chr13:30484200-30484800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:30484200-30484800	Enhancers	Placenta	Placenta
37	chr13:30484200-30484800	Enhancers	HSMMtube	muscle
38	chr13:30484200-30485000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:30484200-30485000	Enhancers	Muscle Satellite Cultured Cells	--

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