Variant report

Variant	rs8042218
Chromosome Location	chr15:52522757-52522758
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52520877..52522858-chr15:52523295..52525074,3	MCF-7	breast:
2	chr15:52521390..52524844-chr15:52525282..52528513,3	MCF-7	breast:
3	chr15:52521161..52523907-chr15:52528053..52529733,2	MCF-7	breast:
4	chr15:52521470..52523349-chr15:52580283..52582342,2	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]
rs10152377	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10152383	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070887	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070888	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12906784	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12915773	0.82[ASN][1000 genomes]
rs2001858	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28730328	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3794553	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4405492	0.94[EUR][1000 genomes]
rs6493547	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8043150	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv904220	chr15:52485024-52526507	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1851383	chr15:52501831-52534344	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1537	chr15:52502246-52537067	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52479800-52532800	Weak transcription	Brain Angular Gyrus	brain
2	chr15:52489200-52523800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:52497400-52535600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:52497800-52549000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:52501600-52532600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:52501800-52528000	Weak transcription	Fetal Heart	heart
7	chr15:52502000-52523800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:52505400-52526800	Weak transcription	Right Ventricle	heart
9	chr15:52505600-52525600	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:52505600-52549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:52506400-52548800	Weak transcription	Fetal Kidney	kidney
12	chr15:52509400-52537200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:52509800-52526800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:52510600-52525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:52512600-52524800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:52512800-52534000	Weak transcription	Colonic Mucosa	Colon
17	chr15:52514000-52539400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:52514400-52525600	Weak transcription	Thymus	Thymus
19	chr15:52514600-52524600	Enhancers	Primary B cells from cord blood	blood
20	chr15:52514600-52524600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:52514800-52523800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:52514800-52524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:52515000-52524000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:52515000-52524000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:52515000-52524800	Enhancers	Primary B cells from peripheral blood	blood
26	chr15:52515600-52523400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:52515600-52523800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:52515600-52524400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:52515600-52525600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr15:52516000-52525600	Weak transcription	Fetal Thymus	thymus
31	chr15:52516000-52549400	Weak transcription	Left Ventricle	heart
32	chr15:52516200-52526400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:52516400-52523200	Weak transcription	Fetal Stomach	stomach
34	chr15:52516400-52525600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:52516600-52523200	Weak transcription	Fetal Intestine Small	intestine
36	chr15:52516600-52523800	Weak transcription	Primary T cells from cord blood	blood
37	chr15:52516800-52528200	Weak transcription	Spleen	Spleen
38	chr15:52517400-52526800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:52517400-52527000	Weak transcription	Brain Anterior Caudate	brain
40	chr15:52517800-52523400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:52518000-52524600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:52518000-52524800	Weak transcription	Adipose Nuclei	Adipose
43	chr15:52518000-52525800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:52518600-52526800	Weak transcription	Gastric	stomach
45	chr15:52518800-52523800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:52518800-52525600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:52518800-52526200	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:52519000-52523400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr15:52519000-52524000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:52519000-52524600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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