Variant report

Variant	rs221471
Chromosome Location	chr14:80105624-80105625
allele	C/T
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:48)

rs_ID	r²[population]
rs17109649	1.00[ASN][1000 genomes]
rs172711	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1816146	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs182610	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs184347	0.87[EUR][1000 genomes]
rs191991	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221436	0.88[EUR][1000 genomes]
rs221437	0.85[EUR][1000 genomes]
rs221439	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221440	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221442	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs221443	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221444	0.88[EUR][1000 genomes]
rs221445	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221446	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs221447	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221448	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221449	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs221450	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs221451	0.94[ASN][1000 genomes]
rs221452	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221453	0.96[ASN][1000 genomes]
rs221455	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221456	0.89[EUR][1000 genomes]
rs221457	0.97[ASN][1000 genomes]
rs221459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs221465	0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs221467	0.92[ASN][1000 genomes]
rs221468	0.91[ASN][1000 genomes]
rs221469	0.86[ASN][1000 genomes]
rs221473	1.00[ASN][1000 genomes]
rs221474	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs221480	0.97[ASN][1000 genomes]
rs221481	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221482	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs221483	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs221484	0.93[EUR][1000 genomes]
rs221485	0.99[ASN][1000 genomes]
rs221497	0.94[ASN][1000 genomes]
rs221511	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs221512	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs221513	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs221514	0.90[EUR][1000 genomes]
rs221516	0.86[ASN][1000 genomes]
rs2543584	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55933035	0.93[ASN][1000 genomes]
rs69029	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs918937	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1834615	chr14:80098883-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1838840	chr14:80098883-80114863	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv511536	chr14:80098883-80115560	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3359313	chr14:80101248-80115879	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	nsv1370	chr14:80103510-80121890	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv565248	chr14:80104576-80110909	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv565249	chr14:80104576-80114558	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	nsv565250	chr14:80104576-80114863	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3531023	chr14:80104699-80109297	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
13	esv990270	chr14:80105013-80115340	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv3515654	chr14:80105199-80116147	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv3515649	chr14:80105549-80116047	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80104600-80106000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:80105000-80105800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:80105000-80106400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr14:80105000-80108600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:80105200-80105800	Enhancers	HSMMtube	muscle
6	chr14:80105200-80106000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:80105400-80106200	Weak transcription	Pancreas	Pancrea
8	chr14:80105600-80106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:80105600-80106000	Active TSS	Skeletal Muscle Female	skeletal muscle

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