Variant report

Variant	rs62014728
Chromosome Location	chr15:34396736-34396737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34395145..34398026-chr15:34628783..34630423,2	K562	blood:
2	chr15:34393027..34397233-chr15:34658612..34660877,5	K562	blood:
3	chr15:34393973..34395738-chr15:34396163..34397953,2	K562	blood:
4	chr15:34394473..34397367-chr15:34405065..34407483,2	K562	blood:
5	chr15:34394445..34396841-chr15:34644524..34647284,2	K562	blood:

Variant related genes	Relation type
ENSG00000182405	Chromatin interaction
ENSG00000140199	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000134153	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12438470	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16958780	0.86[ASN][1000 genomes]
rs28453263	0.84[ASN][1000 genomes]
rs34196590	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60270549	0.89[ASN][1000 genomes]
rs62014729	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033335	0.80[ASN][1000 genomes]
rs8182015	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972453	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	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
2	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
3	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
4	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv903986	chr15:34394273-34421951	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34394600-34400400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:34395000-34397200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:34395000-34399000	Weak transcription	Aorta	Aorta
4	chr15:34395000-34402200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:34395000-34407200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:34395200-34397200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:34395200-34397200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:34395200-34397400	Weak transcription	Brain Substantia Nigra	brain
9	chr15:34395200-34397400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:34395200-34397400	Weak transcription	Fetal Stomach	stomach
11	chr15:34395200-34398400	Weak transcription	Fetal Brain Female	brain
12	chr15:34395200-34399000	Weak transcription	Brain Anterior Caudate	brain
13	chr15:34395200-34399600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:34395200-34401400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:34395400-34397200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:34395400-34397400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:34395400-34397400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:34395400-34398400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:34395400-34398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:34395400-34398600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:34395400-34398600	Weak transcription	HSMM	muscle
22	chr15:34395400-34401600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:34395400-34402000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:34395400-34403600	Weak transcription	Psoas Muscle	Psoas
25	chr15:34395400-34408400	Weak transcription	HSMMtube	muscle
26	chr15:34395600-34397400	Weak transcription	NHDF-Ad	bronchial
27	chr15:34395600-34398400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:34395600-34398400	Weak transcription	Dnd41	blood
29	chr15:34395600-34398600	Weak transcription	A549	lung
30	chr15:34395600-34399000	Weak transcription	NHLF	lung
31	chr15:34395600-34399200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:34395600-34399400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:34395600-34399800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:34395600-34402200	Weak transcription	K562	blood
35	chr15:34395600-34403600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:34395600-34408200	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:34395800-34401400	Weak transcription	HepG2	liver
38	chr15:34396000-34407200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:34396200-34399200	Weak transcription	GM12878-XiMat	blood

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