Variant report

Variant	rs6716279
Chromosome Location	chr2:208968790-208968791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10178641	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10188278	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10188286	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10192276	0.80[EUR][1000 genomes]
rs10198963	0.91[EUR][1000 genomes]
rs1020581	0.95[ASN][1000 genomes]
rs10497893	0.99[ASN][1000 genomes]
rs11677829	0.92[ASN][1000 genomes]
rs11684908	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690797	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11902423	0.84[AFR][1000 genomes]
rs12617623	0.85[AFR][1000 genomes]
rs12617688	0.85[AFR][1000 genomes]
rs12624109	0.85[AFR][1000 genomes]
rs12988963	0.87[EUR][1000 genomes]
rs13006347	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13008550	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13034094	0.95[ASN][1000 genomes]
rs1806338	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2084872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34126491	0.90[ASN][1000 genomes]
rs34274138	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34376060	0.85[AFR][1000 genomes]
rs34577840	0.95[ASN][1000 genomes]
rs34589201	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765959	0.95[ASN][1000 genomes]
rs35934862	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35960349	0.96[ASN][1000 genomes]
rs55770589	0.95[ASN][1000 genomes]
rs55999272	0.89[ASN][1000 genomes]
rs60163320	0.95[ASN][1000 genomes]
rs6435407	0.88[ASN][1000 genomes]
rs6435411	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706511	0.84[AFR][1000 genomes]
rs6709879	0.95[ASN][1000 genomes]
rs6713275	0.87[EUR][1000 genomes]
rs6719817	0.82[AFR][1000 genomes]
rs6728327	0.87[EUR][1000 genomes]
rs6732301	0.94[AFR][1000 genomes]
rs6744189	0.88[ASN][1000 genomes]
rs6745137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747966	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6751131	0.93[ASN][1000 genomes]
rs6757791	0.87[ASN][1000 genomes]
rs6758319	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6759995	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761316	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67900982	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs732008	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732009	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349197	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7349330	0.94[AFR][1000 genomes]
rs7586866	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586953	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7587397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7589556	0.92[EUR][1000 genomes]
rs7590593	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604207	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208965000-208976600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:208967400-208972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:208967400-208976800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:208968400-208968800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:208968400-208968800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:208968600-208969000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:208968600-208969400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:208968600-208969400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:208968600-208970600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:208968600-208972000	Weak transcription	H1 Cell Line	embryonic stem cell

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