Variant report

Variant	rs56402538
Chromosome Location	chr15:83379533-83379534
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr15:83379189-83379562	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83376531..83379793-chr15:83416772..83420723,7	MCF-7	breast:
2	chr15:83378919..83382645-chr15:83417849..83420788,3	K562	blood:
3	chr15:83377715..83379913-chr15:83416850..83419570,2	K562	blood:
4	chr15:83347091..83349558-chr15:83378371..83383465,4	MCF-7	breast:
5	chr15:83378862..83381200-chr15:83497149..83499463,2	K562	blood:
6	chr15:83376368..83380566-chr15:83381796..83385599,6	MCF-7	breast:
7	chr15:83377728..83380235-chr15:83424270..83425985,2	MCF-7	breast:
8	chr15:83348934..83350853-chr15:83378356..83380655,2	K562	blood:

No data

Variant related genes	Relation type
AP3B2	TF binding region
ENSG00000252690	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction
ENSG00000228141	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs55698109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55700126	1.00[EUR][1000 genomes]
rs55732481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55765708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769553	1.00[EUR][1000 genomes]
rs55898630	1.00[EUR][1000 genomes]
rs56144034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261932	1.00[EUR][1000 genomes]
rs72751631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751663	1.00[EUR][1000 genomes]
rs72751664	1.00[EUR][1000 genomes]
rs72751669	1.00[EUR][1000 genomes]
rs72751670	1.00[EUR][1000 genomes]
rs72751671	1.00[EUR][1000 genomes]
rs72751674	1.00[EUR][1000 genomes]
rs72751678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72751701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753936	1.00[EUR][1000 genomes]
rs72753937	1.00[EUR][1000 genomes]
rs72753940	0.91[EUR][1000 genomes]
rs72753942	0.91[EUR][1000 genomes]
rs72753946	0.91[EUR][1000 genomes]
rs72753949	0.91[EUR][1000 genomes]
rs72753951	0.91[EUR][1000 genomes]
rs72753953	0.91[EUR][1000 genomes]
rs72753954	0.91[EUR][1000 genomes]
rs72753960	0.91[EUR][1000 genomes]
rs73443047	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	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
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv904450	chr15:83347193-83395340	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83377600-83379600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr15:83377800-83379600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:83377800-83379600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:83378200-83379600	Flanking Active TSS	Spleen	Spleen
5	chr15:83378600-83379600	Enhancers	Fetal Heart	heart
6	chr15:83378800-83379600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:83379000-83379600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:83379000-83379600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr15:83379200-83379600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:83379200-83379600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:83379200-83379600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:83379200-83379600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:83379200-83379600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr15:83379200-83379600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr15:83379200-83379600	Enhancers	Fetal Brain Male	brain
16	chr15:83379200-83379600	Bivalent Enhancer	Fetal Lung	lung
17	chr15:83379200-83379600	Enhancers	Gastric	stomach
18	chr15:83379200-83379600	Enhancers	Right Ventricle	heart
19	chr15:83379200-83379800	Bivalent Enhancer	Placenta	Placenta
20	chr15:83379200-83380000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:83379200-83380000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:83379200-83380000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:83379400-83379600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr15:83379400-83379600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr15:83379400-83379600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:83379400-83379600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr15:83379400-83379600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:83379400-83379600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr15:83379400-83379600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr15:83379400-83379600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:83379400-83379600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:83379400-83379600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:83379400-83379600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:83379400-83379600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:83379400-83379600	Enhancers	Brain Angular Gyrus	brain
36	chr15:83379400-83379600	Enhancers	Brain Germinal Matrix	brain
37	chr15:83379400-83379600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:83379400-83379600	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:83379400-83379600	Enhancers	NHEK	skin

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