Variant report

Variant	rs72753941
Chromosome Location	chr15:83411399-83411400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr15:83411221-83411778	U2OS	brain:	n/a	n/a
2	MYC	chr15:83410971-83411460	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83408600..83412115-chr15:83418405..83421158,4	K562	blood:
2	chr15:83347939..83350653-chr15:83409789..83412363,2	MCF-7	breast:
3	chr15:83409906..83413739-chr15:83417431..83421180,7	MCF-7	breast:
4	chr15:83408472..83412054-chr15:83414061..83416851,4	MCF-7	breast:
5	chr15:83379613..83381438-chr15:83410217..83412090,2	K562	blood:
6	chr15:83348365..83351043-chr15:83411026..83412591,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259442	TF binding region
ENSG00000259315	TF binding region
ENSG00000250988	Chromatin interaction
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72753936	1.00[AMR][1000 genomes]
rs72753937	1.00[AMR][1000 genomes]
rs72753940	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753942	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753946	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753949	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753951	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753953	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753954	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72753960	1.00[AMR][1000 genomes];0.84[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	esv3413738	chr15:83390947-83422928	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83393800-83418400	Weak transcription	Thymus	Thymus
2	chr15:83394400-83418200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:83394400-83418400	Weak transcription	Primary B cells from cord blood	blood
4	chr15:83394800-83418400	Weak transcription	Brain Angular Gyrus	brain
5	chr15:83395800-83418200	Weak transcription	GM12878-XiMat	blood
6	chr15:83396200-83417800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr15:83396600-83418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:83398400-83418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:83399200-83418000	Weak transcription	Left Ventricle	heart
10	chr15:83399800-83413400	Weak transcription	Lung	lung
11	chr15:83399800-83418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:83399800-83418400	Weak transcription	Adipose Nuclei	Adipose
13	chr15:83400400-83418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:83401200-83418400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr15:83402000-83418200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:83402400-83412800	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:83402400-83418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:83402600-83418200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:83402800-83418200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:83404000-83418000	Weak transcription	Dnd41	blood
21	chr15:83405200-83418400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:83405400-83418600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:83406400-83418200	Weak transcription	Liver	Liver
24	chr15:83406800-83418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:83407200-83418200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr15:83407400-83418400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:83407600-83418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:83407600-83418200	Weak transcription	Primary T cells from cord blood	blood
29	chr15:83407800-83418400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:83408600-83418200	Weak transcription	HSMM	muscle
31	chr15:83410000-83411400	Weak transcription	Placenta	Placenta
32	chr15:83410200-83411600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:83410200-83412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:83410400-83411400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:83410400-83411600	Flanking Active TSS	NHEK	skin
36	chr15:83410600-83411400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:83410600-83411400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:83410600-83411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:83410600-83411800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:83411000-83418200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:83411200-83411400	Enhancers	HMEC	breast
42	chr15:83411200-83411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr15:83411200-83412000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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