Variant report

Variant	rs967232
Chromosome Location	chr15:34115798-34115799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1036005	0.83[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1036006	0.83[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs1036007	0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs11635111	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1429750	0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs1594251	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17817626	0.86[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs17817650	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2288610	0.83[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2288614	0.88[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288615	0.95[CEU][hapmap];0.83[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3815965	0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.81[ASN][1000 genomes]
rs6495268	0.88[ASN][1000 genomes]
rs72716804	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8032198	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8041321	0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv568921	chr15:34046635-34247622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs967232	ACTC1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34061600-34121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:34090600-34151800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:34091800-34151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:34095400-34118400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:34097800-34123800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:34104800-34118400	Weak transcription	Brain Germinal Matrix	brain
7	chr15:34105400-34118200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:34105800-34118600	Weak transcription	Aorta	Aorta
9	chr15:34105800-34126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:34106000-34118400	Weak transcription	Brain Anterior Caudate	brain
11	chr15:34106600-34118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:34107600-34129000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr15:34111400-34119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:34112800-34118600	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:34114400-34118000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr15:34114400-34149400	Weak transcription	Fetal Stomach	stomach
17	chr15:34115400-34118600	Weak transcription	Stomach Smooth Muscle	stomach

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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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