Variant report

Variant	rs72623997
Chromosome Location	chr15:52953805-52953806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52953761..52955379-chr15:52962846..52965093,2	K562	blood:
2	chr15:52953361..52955862-chr15:52969925..52972347,2	K562	blood:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17708373	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2414172	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35689765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3751613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57141956	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59336405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59360599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59808396	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59920981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59997215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60200908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61021982	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182896	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72623993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72623994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72623995	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72623996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72623998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72623999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72624000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs877974	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs877975	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs933861	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv457140	chr15:52901433-52968746	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:52904000-52956800	Weak transcription	Esophagus	oesophagus
3	chr15:52908600-52956200	Weak transcription	Gastric	stomach
4	chr15:52927800-52958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:52928000-52955200	Weak transcription	Thymus	Thymus
6	chr15:52928000-52956400	Weak transcription	Lung	lung
7	chr15:52944200-52965800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr15:52944400-52957000	Weak transcription	Brain Germinal Matrix	brain
9	chr15:52944400-52969600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:52944400-52970200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:52944600-52962000	Weak transcription	Aorta	Aorta
12	chr15:52944600-52965000	Strong transcription	Primary B cells from cord blood	blood
13	chr15:52944600-52965400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr15:52944600-52969800	Weak transcription	Fetal Brain Male	brain
15	chr15:52945000-52965400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:52945000-52968600	Weak transcription	HepG2	liver
17	chr15:52945200-52959800	Weak transcription	Dnd41	blood
18	chr15:52945400-52956600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:52945400-52965400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr15:52945600-52956200	Weak transcription	Colonic Mucosa	Colon
21	chr15:52945600-52958400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:52945600-52962800	Strong transcription	Placenta	Placenta
23	chr15:52945800-52956800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:52946000-52956800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:52946000-52956800	Weak transcription	Small Intestine	intestine
26	chr15:52946000-52962000	Weak transcription	Right Ventricle	heart
27	chr15:52946000-52962000	Weak transcription	Spleen	Spleen
28	chr15:52946000-52965200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr15:52946000-52968200	Weak transcription	Fetal Heart	heart
30	chr15:52946000-52968600	Weak transcription	Stomach Mucosa	stomach
31	chr15:52946800-52959400	Weak transcription	Hela-S3	cervix
32	chr15:52948200-52954400	Weak transcription	Fetal Kidney	kidney
33	chr15:52949200-52965400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:52949200-52965600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:52949400-52966400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:52949600-52954800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:52949600-52958400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:52950000-52954200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:52950000-52954400	Genic enhancers	Liver	Liver
40	chr15:52950000-52959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:52950000-52962000	Weak transcription	NHLF	lung
42	chr15:52950200-52955400	Weak transcription	HMEC	breast
43	chr15:52950200-52959800	Weak transcription	NHEK	skin
44	chr15:52950400-52954200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:52950400-52955800	Weak transcription	Ovary	ovary
46	chr15:52950400-52965800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:52950400-52965800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:52950400-52969400	Weak transcription	A549	lung
49	chr15:52950600-52954800	Strong transcription	NHDF-Ad	bronchial
50	chr15:52950800-52957400	Strong transcription	Left Ventricle	heart

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