Variant report

Variant	rs12910606
Chromosome Location	chr15:83468655-83468656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11259948	0.86[MKK][hapmap];0.80[YRI][hapmap]
rs11259951	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11635618	0.94[JPT][hapmap]
rs11856316	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs11856878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592976	0.82[CHB][hapmap]
rs12907456	0.86[AFR][1000 genomes]
rs1533135	0.82[CHB][hapmap]
rs17158263	0.85[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs1828510	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046071	0.82[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap]
rs2379991	0.88[CHB][hapmap]
rs2379994	0.83[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35788008	0.94[EUR][1000 genomes]
rs4778691	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7174089	0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8033726	0.82[CHB][hapmap]
rs8042254	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv977072	chr15:83467994-83473044	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12910606	ADAMTSL3	cis	parietal	SCAN
rs12910606	WHAMM	cis	parietal	SCAN
rs12910606	TM6SF1	cis	cerebellum	SCAN
rs12910606	ARNT2	cis	cerebellum	SCAN
rs12910606	BTBD1	cis	cerebellum	SCAN
rs12910606	WHAMM	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83450400-83477600	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:83466600-83468800	Enhancers	K562	blood
3	chr15:83467400-83470400	Enhancers	Fetal Heart	heart
4	chr15:83467800-83469000	Enhancers	Psoas Muscle	Psoas
5	chr15:83467800-83469200	Enhancers	Fetal Muscle Leg	muscle
6	chr15:83468000-83468800	Enhancers	Right Ventricle	heart
7	chr15:83468200-83469000	Enhancers	Fetal Muscle Trunk	muscle
8	chr15:83468200-83469000	Enhancers	Left Ventricle	heart
9	chr15:83468200-83469000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr15:83468400-83469200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
11	chr15:83468600-83469200	Enhancers	Right Atrium	heart

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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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