Variant report

Variant	rs34853774
Chromosome Location	chr14:78833832-78833833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10135795	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs10483899	0.86[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap]
rs1112573	0.86[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap]
rs11159356	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432856	0.86[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12589172	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12883984	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs17755949	0.86[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap]
rs17829186	0.81[CEU][hapmap]
rs4899711	0.81[CEU][hapmap]
rs4903752	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60110504	0.82[ASN][1000 genomes]
rs8008554	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs8008709	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs8020842	0.84[ASN][1000 genomes]
rs917906	0.90[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34853774	ENTPD5	cis	parietal	SCAN
rs34853774	HEATR4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78833200-78835600	Enhancers	Brain Germinal Matrix	brain
2	chr14:78833400-78834600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:78833600-78834000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:78833600-78834600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:78833600-78834800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:78833600-78835400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:78833800-78834000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:78833800-78834000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:78833800-78834200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:78833800-78834600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:78833800-78834600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:78833800-78834600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr14:78833800-78834800	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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