Variant report

Variant	rs2181916
Chromosome Location	chr6:33893305-33893306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33887758..33891673-chr6:33891780..33895604,5	K562	blood:
2	chr6:33890903..33893411-chr6:33904076..33906137,2	MCF-7	breast:
3	chr6:33892310..33894285-chr6:33898684..33900893,3	K562	blood:
4	chr6:33885575..33887845-chr6:33891756..33894139,2	MCF-7	breast:
5	chr6:33892310..33894351-chr6:33897735..33900618,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR3-1	chr6:33892111-33895408	ENSG00000233183

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10807129	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324579	0.97[EUR][1000 genomes]
rs1408503	0.86[EUR][1000 genomes]
rs1535940	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535941	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535943	0.85[EUR][1000 genomes]
rs1535944	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535945	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535946	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535947	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1969843	0.94[EUR][1000 genomes]
rs2093907	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147423	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147426	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147427	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147428	1.00[ASN][1000 genomes]
rs2477228	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477231	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477232	0.96[EUR][1000 genomes]
rs2477235	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477236	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477237	0.96[EUR][1000 genomes]
rs2499681	0.80[EUR][1000 genomes]
rs2499737	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711364	0.90[EUR][1000 genomes]
rs4711365	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713715	0.90[EUR][1000 genomes]
rs4713716	0.90[EUR][1000 genomes]
rs4713717	0.90[EUR][1000 genomes]
rs4713721	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457747	0.90[EUR][1000 genomes]
rs6921366	0.90[EUR][1000 genomes]
rs9296103	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368781	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942506	0.90[EUR][1000 genomes]
rs942508	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942509	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942510	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942511	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462899	chr6:33880480-33944014	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv602841	chr6:33880480-33944014	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3409018	chr6:33890574-33894172	Enhancers Bivalent Enhancer Weak transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33886600-33894600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33890600-33893400	Enhancers	Fetal Thymus	thymus
3	chr6:33891600-33893400	Enhancers	Pancreas	Pancrea
4	chr6:33891600-33893800	Enhancers	Spleen	Spleen
5	chr6:33891800-33894000	Enhancers	Ovary	ovary
6	chr6:33892200-33895600	Enhancers	Brain Germinal Matrix	brain
7	chr6:33892400-33894200	Enhancers	Fetal Brain Male	brain
8	chr6:33893000-33894000	Enhancers	Lung	lung
9	chr6:33893000-33894400	Enhancers	Fetal Brain Female	brain
10	chr6:33893000-33895200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:33893200-33894000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33893200-33897600	Weak transcription	Fetal Lung	lung

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