Variant report

Variant	rs1317720
Chromosome Location	chr14:79903839-79903840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79899576..79901464-chr14:79902826..79905660,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10483921	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12881194	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12888258	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12891144	0.92[CEU][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes]
rs12894675	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17758297	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17758369	0.91[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17758381	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2003615	0.96[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs2003616	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]
rs2007924	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2043588	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197991	0.81[CHD][hapmap]
rs34713513	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34765073	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35086482	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4243664	0.96[CEU][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4640109	0.85[EUR][1000 genomes]
rs4903859	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4903860	0.96[CEU][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56034924	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56209900	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61295692	0.91[EUR][1000 genomes]
rs7140201	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7142987	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs736641	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8012110	0.80[MEX][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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79901800-79904800	Enhancers	Stomach Smooth Muscle	stomach
2	chr14:79902800-79904600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:79902800-79906800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:79903000-79904200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:79903000-79904200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:79903000-79904600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:79903200-79904800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:79903200-79905600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:79903200-79906800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:79903200-79908600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:79903400-79908200	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:79903400-79908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:79903400-79910200	Weak transcription	Fetal Stomach	stomach
14	chr14:79903600-79911800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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