Variant report

Variant	rs17816946
Chromosome Location	chr15:33445052-33445053
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:33440953..33442916-chr15:33444085..33445999,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11072275	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072278	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637274	0.80[AMR][1000 genomes]
rs11637738	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591081	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592365	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28377066	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28507600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28609827	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4780086	0.81[AFR][1000 genomes]
rs4780088	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33427800-33445400	Weak transcription	Right Atrium	heart
2	chr15:33438600-33449800	Weak transcription	NHEK	skin
3	chr15:33439000-33445200	Weak transcription	Placenta	Placenta
4	chr15:33439000-33445200	Weak transcription	Lung	lung
5	chr15:33439000-33447200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:33441000-33445200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:33441000-33445200	Weak transcription	Brain Angular Gyrus	brain
8	chr15:33441000-33447000	Weak transcription	Fetal Thymus	thymus
9	chr15:33441200-33451800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:33442200-33447600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:33442200-33447600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr15:33442600-33448000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:33442800-33445200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:33442800-33445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:33442800-33447400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:33443000-33445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:33443200-33445200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:33443400-33445200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:33443400-33445600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:33443400-33446200	Active TSS	Psoas Muscle	Psoas
21	chr15:33443600-33445600	Weak transcription	Primary B cells from cord blood	blood
22	chr15:33443800-33447000	Weak transcription	Fetal Kidney	kidney
23	chr15:33443800-33450200	Weak transcription	Fetal Intestine Large	intestine
24	chr15:33444000-33445200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:33444000-33445200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:33444000-33445600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:33444000-33445600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:33444200-33445200	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:33444200-33446000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:33444200-33446000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr15:33444400-33445200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:33444400-33445200	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:33444600-33445200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:33444600-33445200	Active TSS	HSMMtube	muscle
35	chr15:33444600-33445600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:33444600-33445800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:33444600-33447800	Enhancers	HMEC	breast
38	chr15:33444800-33445400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:33444800-33445400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr15:33444800-33445400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:33445000-33445200	Enhancers	Stomach Smooth Muscle	stomach
42	chr15:33445000-33445400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr15:33445000-33445400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr15:33445000-33445600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr15:33445000-33445800	Flanking Active TSS	HSMM	muscle
46	chr15:33445000-33446400	Weak transcription	Osteobl	bone
47	chr15:33445000-33447000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:33445000-33447200	Weak transcription	Rectal Smooth Muscle	rectum

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