Variant report

Variant	rs13338370
Chromosome Location	chr16:79906206-79906207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11639862	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11641099	0.83[CHB][hapmap]
rs11649129	0.80[CEU][hapmap];0.92[CHB][hapmap]
rs11861595	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12102675	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13336562	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13337624	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16951534	0.92[CHB][hapmap]
rs28711066	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4378627	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4482294	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7195432	0.89[CHB][hapmap]
rs8049249	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8057440	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9922138	0.84[ASN][1000 genomes]
rs9934804	0.83[ASN][1000 genomes]
rs9941162	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1059511	chr16:79847882-79925436	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv542984	chr16:79847882-79925436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv573290	chr16:79853267-79939504	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv573291	chr16:79881386-79931595	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv906993	chr16:79883850-79923310	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv906994	chr16:79883850-79928186	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv34919	chr16:79889959-79923310	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv457555	chr16:79893737-79926134	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv471100	chr16:79893737-79926134	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv573292	chr16:79893737-79926134	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2757646	chr16:79894964-79923310	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv2758662	chr16:79894964-79923310	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv457556	chr16:79896825-79926134	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv573293	chr16:79896825-79926134	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13338370	TMEM231	cis	parietal	SCAN
rs13338370	LQK1	trans	cerebellum	SCAN
rs13338370	PKD1L2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79904800-79911200	Weak transcription	Spleen	Spleen
2	chr16:79905200-79908000	Weak transcription	K562	blood

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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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