Variant report

Variant	rs13379938
Chromosome Location	chr15:39792237-39792238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39784312..39786766-chr15:39790044..39793415,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152903	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12438774	1.00[ASN][1000 genomes]
rs12442155	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12442221	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16969167	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17702987	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2054448	1.00[ASN][1000 genomes]
rs28773862	1.00[ASN][1000 genomes]
rs62002377	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62002378	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62002379	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62002380	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62002384	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7179604	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74008526	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8039714	1.00[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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39788000-39794000	Enhancers	NHDF-Ad	bronchial
2	chr15:39788000-39795400	Enhancers	Fetal Stomach	stomach
3	chr15:39788200-39792400	Enhancers	Rectal Smooth Muscle	rectum
4	chr15:39788200-39792800	Enhancers	Fetal Muscle Leg	muscle
5	chr15:39788200-39795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:39789000-39794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:39789000-39800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:39789000-39803200	Weak transcription	Left Ventricle	heart
9	chr15:39789800-39793400	Weak transcription	Esophagus	oesophagus
10	chr15:39790200-39794400	Weak transcription	K562	blood
11	chr15:39790400-39793200	Weak transcription	NHEK	skin
12	chr15:39790600-39793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:39790600-39793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:39790600-39793600	Weak transcription	HSMM	muscle
15	chr15:39790800-39793400	Weak transcription	HSMMtube	muscle
16	chr15:39791000-39793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:39791000-39793400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:39791000-39793600	Weak transcription	HMEC	breast
19	chr15:39791000-39795400	Weak transcription	Fetal Thymus	thymus
20	chr15:39791200-39793400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:39791200-39794400	Weak transcription	Placenta	Placenta
22	chr15:39791400-39794400	Weak transcription	Fetal Intestine Large	intestine
23	chr15:39791600-39793400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:39791600-39793400	Weak transcription	Fetal Heart	heart
25	chr15:39791600-39794400	Weak transcription	Osteobl	bone
26	chr15:39791600-39796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:39791600-39803200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:39791600-39803400	Weak transcription	Fetal Lung	lung
29	chr15:39791800-39793800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:39791800-39794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:39792000-39792600	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:39792000-39793600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:39792200-39792600	Enhancers	Right Atrium	heart
34	chr15:39792200-39793400	Weak transcription	NHLF	lung
35	chr15:39792200-39794000	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:39792200-39803600	Weak transcription	Ovary	ovary

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