Variant report

Variant	rs6758319
Chromosome Location	chr2:208965620-208965621
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208965617..208968343-chr2:209118826..209120750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138413	Chromatin interaction
ENSG00000231908	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10178641	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10188278	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10188286	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10192276	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10198963	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1020581	0.83[ASN][1000 genomes]
rs10497893	0.86[ASN][1000 genomes]
rs11684908	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11690797	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12988963	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13006347	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13008550	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13034094	0.83[ASN][1000 genomes]
rs1806338	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2084872	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34274138	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34577840	0.83[ASN][1000 genomes]
rs34589201	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34765959	0.83[ASN][1000 genomes]
rs35934862	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35960349	0.84[ASN][1000 genomes]
rs55770589	0.83[ASN][1000 genomes]
rs60163320	0.83[ASN][1000 genomes]
rs6435407	0.99[ASN][1000 genomes]
rs6435411	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6709879	0.83[ASN][1000 genomes]
rs6713275	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6716279	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6728327	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744189	0.99[ASN][1000 genomes]
rs6745137	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6745370	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6747966	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751131	0.81[ASN][1000 genomes]
rs6757791	0.98[ASN][1000 genomes]
rs6759995	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761316	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67900982	0.80[EUR][1000 genomes]
rs732008	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732009	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7349197	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7586866	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586953	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587397	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7589556	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7590593	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7604207	0.94[EUR][1000 genomes];0.87[ASN][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208962400-208968600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:208964600-208966600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:208964600-208967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208964800-208966600	Enhancers	Primary T cells from cord blood	blood
5	chr2:208964800-208966800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:208964800-208966800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:208964800-208967000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:208964800-208967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:208965000-208976600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:208965200-208966400	Weak transcription	HepG2	liver
11	chr2:208965400-208966000	Flanking Active TSS	Dnd41	blood
12	chr2:208965600-208966800	Enhancers	Fetal Thymus	thymus

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