Variant report

Variant	rs2049831
Chromosome Location	chr14:80289134-80289135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10144071	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162466	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1159039	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11623525	0.82[ASN][1000 genomes]
rs12589026	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590855	0.84[ASN][1000 genomes]
rs12895492	0.82[ASN][1000 genomes]
rs17764734	0.82[CEU][hapmap]
rs2049832	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2205217	0.83[ASN][1000 genomes]
rs2223033	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2242642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242643	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242645	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242646	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242647	0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2242649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2280799	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293818	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293819	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293820	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293821	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293822	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293824	0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2293825	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2293826	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2293829	0.91[CHB][hapmap];0.84[CHD][hapmap];0.84[ASN][1000 genomes]
rs2293830	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35152678	0.82[ASN][1000 genomes]
rs4486813	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903880	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr14:80286600-80291000	Enhancers	Brain Substantia Nigra	brain
2	chr14:80286800-80289400	Enhancers	Brain Angular Gyrus	brain
3	chr14:80286800-80289600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:80287000-80289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:80287400-80289400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:80287400-80289400	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr14:80287600-80290000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:80287600-80291600	Weak transcription	Fetal Lung	lung
9	chr14:80287800-80289200	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:80287800-80290200	Weak transcription	Fetal Kidney	kidney
11	chr14:80288000-80296000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:80288200-80289600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:80288800-80289400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:80288800-80290200	Weak transcription	Brain Anterior Caudate	brain

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