Variant report

Variant	rs918938
Chromosome Location	chr14:80027917-80027918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs170246	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs170247	0.91[CEU][hapmap];0.95[TSI][hapmap];0.80[EUR][1000 genomes]
rs172710	0.92[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2008386	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221414	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs221417	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MKK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs221426	0.83[CEU][hapmap]
rs2543578	0.85[ASW][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap]
rs2552415	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

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	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	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
3	chr14:80027200-80030400	Enhancers	Brain Germinal Matrix	brain
4	chr14:80027400-80028600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:80027400-80029000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:80027400-80029000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:80027400-80029600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:80027400-80034400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:80027600-80029400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:80027600-80036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:80027800-80028200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:80027800-80028200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:80027800-80029000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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