Variant report

Variant	rs7202869
Chromosome Location	chr16:80626674-80626675
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:14)

rs_ID	r²[population]
rs10395	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1562989	0.83[EUR][1000 genomes]
rs1985288	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2316156	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2316157	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4281727	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4516240	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4547350	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4622522	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7405439	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053414	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9923760	0.84[AMR][1000 genomes]
rs9927579	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9936948	0.86[AMR][1000 genomes];0.81[EUR][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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3442318	chr16:80626351-80628649	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7202869	PLCG2	cis	parietal	SCAN
rs7202869	TERF2IP	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80619200-80632600	Weak transcription	Hela-S3	cervix
2	chr16:80621200-80628200	Weak transcription	Placenta	Placenta
3	chr16:80625400-80645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:80625600-80636000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr16:80625600-80637800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:80625800-80626800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr16:80626000-80626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:80626000-80639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:80626200-80637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:80626200-80640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:80626200-80640000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:80626400-80636800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:80626600-80626800	Enhancers	Right Ventricle	heart
14	chr16:80626600-80636600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:80626600-80637800	Weak transcription	Liver	Liver

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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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