Variant report

Variant	rs6972310
Chromosome Location	chr7:14391369-14391370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10247569	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255276	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs10950520	0.83[JPT][hapmap]
rs12699613	0.83[JPT][hapmap]
rs17168087	0.90[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17168091	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357898	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6971911	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs6977358	0.81[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap]
rs991355	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1793644	chr7:14385632-14391369	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
3	nsv606281	chr7:14388381-14443963	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv967428	chr7:14390125-14405382	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6972310	VWDE	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14390200-14391600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:14390800-14391400	Enhancers	Fetal Heart	heart

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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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