Variant report

Variant	rs72690954
Chromosome Location	chr14:81159237-81159238
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12436064	0.91[ASN][1000 genomes]
rs12589458	0.91[ASN][1000 genomes]
rs12882090	0.91[ASN][1000 genomes]
rs2590483	0.89[ASN][1000 genomes]
rs2596112	0.91[ASN][1000 genomes]
rs2619666	0.91[ASN][1000 genomes]
rs6574600	0.91[ASN][1000 genomes]
rs67713542	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018693	0.91[ASN][1000 genomes]
rs9783629	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv974290	chr14:81155152-81161683	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81147400-81171400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:81148000-81167400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:81148400-81167200	Weak transcription	Fetal Thymus	thymus
4	chr14:81149000-81171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81158000-81159600	Genic enhancers	Dnd41	blood
6	chr14:81158600-81159600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:81158800-81159600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:81158800-81159600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:81159200-81159600	Enhancers	HUES48 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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