Variant report

Variant	rs3819548
Chromosome Location	chr14:72931542-72931543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10132956	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139793	0.81[AMR][1000 genomes]
rs10149051	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12432358	0.82[ASN][1000 genomes]
rs12436819	0.81[AMR][1000 genomes]
rs17115530	0.84[JPT][hapmap]
rs17115702	0.81[AMR][1000 genomes]
rs2238190	0.89[MEX][hapmap];0.85[AMR][1000 genomes]
rs2302143	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2302144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4396471	0.94[ASN][1000 genomes]
rs4396472	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4903022	0.88[JPT][hapmap]
rs58470149	0.81[AMR][1000 genomes]
rs58482573	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs740536	0.88[AMR][1000 genomes]
rs8022670	0.81[AMR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72929800-72934000	Weak transcription	Gastric	stomach
4	chr14:72930200-72943400	Weak transcription	Left Ventricle	heart
5	chr14:72930400-72943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:72930600-72934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:72931400-72933800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72931400-72934400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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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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