Variant report

Variant	rs912792
Chromosome Location	chr13:30492217-30492218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11616970	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617644	0.99[ASN][1000 genomes]
rs11618111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843877	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17074015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17074040	0.85[JPT][hapmap]
rs17631508	0.89[ASN][1000 genomes]
rs2027459	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2027460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2031492	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2039948	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34444526	1.00[ASN][1000 genomes]
rs56144866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60031463	0.97[ASN][1000 genomes]
rs61947281	1.00[ASN][1000 genomes]
rs7994117	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs912790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs912791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927735	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9314988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9508589	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9508590	0.90[CEU][hapmap];0.90[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:15 , 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	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:30484800-30492400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30485000-30494200	Weak transcription	A549	lung
6	chr13:30486400-30492400	Weak transcription	Esophagus	oesophagus
7	chr13:30486400-30492400	Weak transcription	Placenta	Placenta
8	chr13:30486400-30492400	Weak transcription	Gastric	stomach
9	chr13:30491200-30493000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:30491200-30493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30491600-30492800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:30491600-30493000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr13:30491800-30492600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:30491800-30493000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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