Variant report

Variant	rs2062745
Chromosome Location	chr14:79511564-79511565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10132970	0.82[JPT][hapmap]
rs10133681	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10134650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10138639	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139370	0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs10139445	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10148992	0.82[JPT][hapmap]
rs10873320	0.84[ASN][1000 genomes]
rs11622043	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11845522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12432509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12878144	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12893811	1.00[EUR][1000 genomes]
rs12896260	0.82[JPT][hapmap]
rs1532727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1532730	0.84[ASN][1000 genomes]
rs168903	0.82[JPT][hapmap]
rs17108489	0.82[JPT][hapmap]
rs1875596	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1875597	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062739	0.84[ASN][1000 genomes]
rs2062742	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062743	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088965	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2102170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2202169	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2202170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2202173	1.00[EUR][1000 genomes]
rs2202174	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2202176	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2202177	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2202178	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs2202181	1.00[EUR][1000 genomes]
rs2202186	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2221299	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2221300	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2251903	0.82[JPT][hapmap]
rs2370894	0.84[ASN][1000 genomes]
rs2370896	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620390	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2653539	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4141948	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs4243661	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243662	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs4542593	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs4635270	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4903810	0.84[ASN][1000 genomes]
rs4903814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4903815	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4903822	0.82[JPT][hapmap]
rs4903826	1.00[EUR][1000 genomes]
rs4903831	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5023075	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6574479	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6574484	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6574485	1.00[EUR][1000 genomes]
rs6574488	0.83[EUR][1000 genomes]
rs6574489	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs6574490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143117	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs7144960	0.84[ASN][1000 genomes]
rs7144999	1.00[EUR][1000 genomes]
rs7145587	0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs7156110	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs8005119	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs8011782	1.00[EUR][1000 genomes]
rs8021865	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs937649	0.82[JPT][hapmap]
rs937650	0.82[JPT][hapmap]
rs9652298	0.81[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	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
5	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv565247	chr14:79508316-79555651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79511000-79513000	Enhancers	NHEK	skin
2	chr14:79511200-79511800	Flanking Active TSS	HUVEC	blood vessel
3	chr14:79511200-79512600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:79511200-79513000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:79511200-79513000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:79511200-79513000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:79511200-79513000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:79511200-79513400	Enhancers	HMEC	breast
9	chr14:79511400-79512000	Enhancers	Hela-S3	cervix
10	chr14:79511400-79512200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr14:79511400-79512200	Enhancers	Colon Smooth Muscle	Colon
12	chr14:79511400-79512200	Enhancers	NH-A	brain
13	chr14:79511400-79512800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:79511400-79512800	Enhancers	HSMM	muscle
15	chr14:79511400-79513000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:79511400-79513000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:79511400-79513000	Enhancers	Placenta Amnion	Placenta Amnion

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