Variant report

Variant	rs7991022
Chromosome Location	chr13:30280661-30280662
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30163838..30166172-chr13:30279497..30282436,2	K562	blood:
2	chr13:30167909..30169969-chr13:30279599..30282032,2	MCF-7	breast:
3	chr13:30277466..30279182-chr13:30280230..30281959,2	MCF-7	breast:
4	chr13:30046194..30046720-chr13:30280067..30280777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1010154	0.84[ASN][1000 genomes]
rs12854213	0.84[ASN][1000 genomes]
rs12870250	0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs12870927	0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1467601	0.95[ASN][1000 genomes]
rs1590696	0.87[ASN][1000 genomes]
rs1752040	0.87[ASN][1000 genomes]
rs17625129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078408	0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2388241	0.81[ASN][1000 genomes]
rs34053860	0.92[ASN][1000 genomes]
rs3858738	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4769767	0.87[ASN][1000 genomes]
rs4769768	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4769769	0.84[ASN][1000 genomes]
rs6490421	0.81[ASN][1000 genomes]
rs6490422	0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6490423	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6490424	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317991	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7318002	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7323986	0.93[ASN][1000 genomes]
rs7324910	0.93[ASN][1000 genomes]
rs7328052	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7333892	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7337296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9506220	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9508530	0.81[ASN][1000 genomes]
rs9508532	0.83[ASN][1000 genomes]
rs9508533	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9508534	0.85[ASN][1000 genomes]
rs9508535	0.85[ASN][1000 genomes]
rs9508536	0.87[ASN][1000 genomes]
rs9508537	0.87[ASN][1000 genomes]
rs9508538	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs9508539	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9508540	0.98[ASN][1000 genomes]
rs9508541	0.87[ASN][1000 genomes]
rs9550489	0.87[ASN][1000 genomes]
rs9551721	0.97[ASN][1000 genomes]
rs9551722	0.84[ASN][1000 genomes]
rs9579471	0.84[ASN][1000 genomes]
rs9634355	0.87[ASN][1000 genomes]
rs997896	0.95[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30278800-30281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:30278800-30283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:30279000-30281200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:30279000-30281800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:30279200-30281200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr13:30279200-30281600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:30279600-30281600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30279600-30281800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:30280200-30280800	Enhancers	Spleen	Spleen
10	chr13:30280200-30281400	Weak transcription	NHDF-Ad	bronchial
11	chr13:30280200-30282800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:30280400-30284600	Weak transcription	Esophagus	oesophagus
13	chr13:30280600-30282600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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