Variant report

Variant	rs57365949
Chromosome Location	chr14:72904410-72904411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11158956	0.92[EUR][1000 genomes]
rs11623104	0.88[EUR][1000 genomes]
rs2283380	0.81[ASN][1000 genomes]
rs3784045	0.92[EUR][1000 genomes]
rs3784047	0.92[EUR][1000 genomes]
rs3825714	0.92[EUR][1000 genomes]
rs4140998	0.82[EUR][1000 genomes]
rs7156512	0.93[EUR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72891000-72908600	Weak transcription	Left Ventricle	heart
2	chr14:72901200-72906800	Enhancers	Dnd41	blood
3	chr14:72901400-72904600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72902200-72905600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:72902400-72905800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:72902600-72905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:72904400-72904600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:72904400-72905400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:72904400-72906000	Strong transcription	Ganglion Eminence 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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