Variant report

Variant	rs8023550
Chromosome Location	chr15:40599296-40599297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40597155..40599934-chr15:40605080..40607975,2	K562	blood:
2	chr15:40588970..40591870-chr15:40597041..40599915,2	K562	blood:
3	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
4	chr15:40596629..40600129-chr15:40604012..40607975,4	K562	blood:

Variant related genes	Relation type
ENSG00000244705	Chromatin interaction
ENSG00000259330	Chromatin interaction
ENSG00000259198	Chromatin interaction
ENSG00000137841	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1123487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305645	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3743138	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784399	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55927878	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56135201	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56203022	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62021888	0.91[AMR][1000 genomes];0.88[EUR][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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv457118	chr15:40565705-40606484	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv569227	chr15:40565705-40606484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40590000-40599600	Weak transcription	Pancreas	Pancrea
3	chr15:40594200-40601000	Weak transcription	Fetal Lung	lung
4	chr15:40595000-40599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:40595200-40599400	Weak transcription	K562	blood
6	chr15:40597600-40602000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:40597800-40601600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:40598000-40599800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr15:40598000-40601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:40598000-40602200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr15:40598000-40602400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr15:40598400-40599800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr15:40598400-40600000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:40598400-40600000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr15:40598400-40600000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:40598400-40600000	Active TSS	Brain Hippocampus Middle	brain
17	chr15:40598400-40600200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:40598400-40601400	Flanking Active TSS	Fetal Thymus	thymus
19	chr15:40598400-40602200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr15:40598400-40602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40598600-40599400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr15:40598600-40599600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:40598600-40599600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:40598600-40599800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:40598600-40600000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr15:40598600-40600800	Flanking Active TSS	Dnd41	blood
27	chr15:40598600-40601000	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr15:40598600-40602200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:40598600-40602400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr15:40598800-40599400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr15:40598800-40599400	Active TSS	Right Atrium	heart
32	chr15:40598800-40599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:40598800-40600000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr15:40598800-40600000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:40598800-40600000	Active TSS	Brain Substantia Nigra	brain
36	chr15:40598800-40600000	Enhancers	Fetal Heart	heart
37	chr15:40598800-40600000	Flanking Active TSS	GM12878-XiMat	blood
38	chr15:40598800-40600400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:40598800-40600600	Flanking Active TSS	Fetal Stomach	stomach
40	chr15:40598800-40600600	Active TSS	Left Ventricle	heart
41	chr15:40598800-40601000	Active TSS	Adipose Nuclei	Adipose
42	chr15:40598800-40601000	Active TSS	Brain Anterior Caudate	brain
43	chr15:40598800-40601000	Active TSS	Rectal Smooth Muscle	rectum
44	chr15:40598800-40601200	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr15:40598800-40601200	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr15:40598800-40602400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:40599000-40599600	Active TSS	Lung	lung
48	chr15:40599000-40599600	Weak transcription	Right Ventricle	heart
49	chr15:40599000-40600000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:40599000-40600000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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