Variant report

Variant	rs2116318
Chromosome Location	chr7:14471375-14471376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10237790	0.84[EUR][1000 genomes]
rs10253325	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10264038	0.81[EUR][1000 genomes]
rs10271285	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10499440	0.85[CEU][hapmap]
rs10950525	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10950526	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11525791	1.00[CEU][hapmap]
rs11526188	0.85[CEU][hapmap]
rs11977908	0.85[CEU][hapmap]
rs11978895	1.00[CEU][hapmap]
rs12531006	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12532388	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12532453	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs12533433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533729	0.90[EUR][1000 genomes]
rs12534446	1.00[CEU][hapmap]
rs12538874	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12540646	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12540892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1367775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16878172	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17168175	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17168177	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17168203	0.85[CEU][hapmap]
rs171926	0.96[EUR][1000 genomes]
rs17651138	0.85[CEU][hapmap]
rs17651211	0.85[CEU][hapmap]
rs1835676	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1835677	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs183808	0.99[EUR][1000 genomes]
rs196750	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs196753	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs196760	1.00[CEU][hapmap]
rs2116317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2163509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58759714	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59778011	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs60294470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62443273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9639198	0.85[CEU][hapmap]

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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv915603	chr7:14443884-14624268	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1848567	chr7:14464118-14579801	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv971153	chr7:14468435-14473759	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14470600-14473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:14471000-14471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:14471000-14471800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:14471000-14472200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:14471000-14472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:14471000-14472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:14471200-14471600	Enhancers	Pancreatic Islets	Pancreatic Islet

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