Variant report

Variant	rs13379836
Chromosome Location	chr15:39795093-39795094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39788869..39791943-chr15:39792558..39796121,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10152903	0.87[TSI][hapmap];0.85[YRI][hapmap]
rs11070216	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1159994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs1159995	0.98[EUR][1000 genomes]
rs11629737	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11639087	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12591824	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592357	0.88[CHB][hapmap];0.92[CHD][hapmap];0.80[JPT][hapmap]
rs12594419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12906549	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1351166	0.98[EUR][1000 genomes]
rs1478606	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.80[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1947783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs2199657	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2411292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.80[JPT][hapmap];0.97[TSI][hapmap]
rs4924365	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924366	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6492900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs7169338	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719964	0.88[CHB][hapmap];0.92[CHD][hapmap];0.80[JPT][hapmap]
rs8038823	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8042244	0.96[ASN][1000 genomes]
rs875682	0.94[ASN][1000 genomes]
rs899285	0.96[ASN][1000 genomes]
rs936532	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13379836	ACTC1	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39788000-39795400	Enhancers	Fetal Stomach	stomach
2	chr15:39788200-39795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:39789000-39800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:39789000-39803200	Weak transcription	Left Ventricle	heart
5	chr15:39791000-39795400	Weak transcription	Fetal Thymus	thymus
6	chr15:39791600-39796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:39791600-39803200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:39791600-39803400	Weak transcription	Fetal Lung	lung
9	chr15:39792200-39803600	Weak transcription	Ovary	ovary
10	chr15:39792400-39796400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:39793200-39795200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:39793200-39795600	Enhancers	NHEK	skin
13	chr15:39793400-39795400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:39793400-39795600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:39793600-39795400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:39793600-39795600	Enhancers	HMEC	breast
17	chr15:39793800-39795400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:39793800-39802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:39793800-39803200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:39793800-39803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:39794000-39795800	Weak transcription	NHDF-Ad	bronchial
22	chr15:39794000-39796000	Weak transcription	NHLF	lung
23	chr15:39794000-39796600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:39794000-39796600	Weak transcription	NH-A	brain
25	chr15:39794000-39797600	Enhancers	Colon Smooth Muscle	Colon
26	chr15:39794000-39800600	Weak transcription	HSMM	muscle
27	chr15:39794400-39795200	Enhancers	Osteobl	bone
28	chr15:39794400-39795400	Enhancers	K562	blood
29	chr15:39794400-39802800	Weak transcription	Fetal Heart	heart
30	chr15:39794600-39795200	Weak transcription	Fetal Muscle Leg	muscle
31	chr15:39794600-39795600	Weak transcription	Right Atrium	heart
32	chr15:39794600-39796600	Weak transcription	Lung	lung
33	chr15:39794600-39801000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:39794800-39795200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:39795000-39795400	Enhancers	Fetal Intestine Large	intestine

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