Variant report

Variant	rs8111293
Chromosome Location	chr19:44198526-44198527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs122958	1.00[ASN][1000 genomes]
rs12462817	0.96[ASN][1000 genomes]
rs346062	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs346063	0.96[ASN][1000 genomes]
rs7253262	0.99[ASN][1000 genomes]
rs740587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs82417	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv819607	chr19:44196593-44201200	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8111293	NUCB1	cis	cerebellum	SCAN
rs8111293	TBC1D17	cis	cerebellum	SCAN
rs8111293	PVR	cis	cerebellum	SCAN
rs8111293	ZNF350	cis	cerebellum	SCAN
rs8111293	SIGLEC6	cis	cerebellum	SCAN
rs8111293	BBC3	cis	parietal	SCAN
rs8111293	DHX34	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:44194800-44199400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:44196200-44199000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:44198400-44198600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:44198400-44199000	Enhancers	Stomach Mucosa	stomach
6	chr19:44198400-44199400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr19:44198400-44199600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr19:44198400-44200800	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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