Variant report

Variant	rs2332753
Chromosome Location	chr14:72561308-72561309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2239264	0.81[JPT][hapmap]
rs4899426	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56220001	0.85[ASN][1000 genomes]
rs7142272	0.96[JPT][hapmap]
rs981975	0.81[JPT][hapmap]

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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72556800-72563400	Weak transcription	Left Ventricle	heart
2	chr14:72556800-72563400	Weak transcription	Right Atrium	heart
3	chr14:72558400-72563600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:72560200-72562200	Enhancers	Brain Germinal Matrix	brain
5	chr14:72560400-72561400	Weak transcription	Fetal Brain Female	brain
6	chr14:72560600-72566600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72560800-72562200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:72561000-72561600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:72561200-72561400	Active TSS	GM12878-XiMat	blood
10	chr14:72561200-72564000	Weak transcription	ES-I3 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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