Variant report

Variant	rs72623995
Chromosome Location	chr15:52916182-52916183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52911044..52913155-chr15:52914885..52916943,2	K562	blood:

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

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

rs_ID	r²[population]
rs17708373	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2414172	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35689765	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751613	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57141956	0.95[EUR][1000 genomes]
rs59336405	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59360599	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59808396	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59920981	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59997215	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60200908	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61021982	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7182896	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623993	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623994	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72623996	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72623997	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72623998	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72623999	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72624000	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs877974	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs877975	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs933861	0.93[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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52861200-52925200	Weak transcription	Stomach Mucosa	stomach
2	chr15:52861800-52934800	Weak transcription	Right Ventricle	heart
3	chr15:52869400-52945400	Weak transcription	Small Intestine	intestine
4	chr15:52871800-52967600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:52872200-52933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:52872600-52920800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:52873400-52928000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:52874200-52917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:52874800-52944200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:52875400-52916200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:52882200-52920000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:52882400-52926000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr15:52885600-52945200	Weak transcription	Spleen	Spleen
14	chr15:52891400-52927600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:52899000-52920400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:52899600-52917000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:52899600-52944400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:52900600-52944000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:52900800-52945200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:52902200-52943800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:52902400-52916400	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:52902400-52925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:52902400-52934800	Weak transcription	NH-A	brain
24	chr15:52902600-52916400	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:52902600-52927400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:52902600-52942000	Weak transcription	HUVEC	blood vessel
27	chr15:52902800-52916400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:52903400-52925400	Weak transcription	Brain Germinal Matrix	brain
29	chr15:52903400-52933800	Weak transcription	Fetal Heart	heart
30	chr15:52903400-52943800	Weak transcription	Hela-S3	cervix
31	chr15:52903400-52944000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:52903600-52942400	Weak transcription	Dnd41	blood
33	chr15:52903600-52945400	Weak transcription	Colonic Mucosa	Colon
34	chr15:52904000-52922800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr15:52904000-52934400	Weak transcription	Fetal Brain Male	brain
36	chr15:52904000-52943400	Weak transcription	Fetal Kidney	kidney
37	chr15:52904000-52945400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:52904000-52956800	Weak transcription	Esophagus	oesophagus
39	chr15:52904800-52928400	Weak transcription	Osteobl	bone
40	chr15:52906200-52916400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:52906200-52934200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:52906200-52944000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:52907000-52917000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr15:52907000-52920200	Strong transcription	Primary T cells from cord blood	blood
45	chr15:52907200-52920400	Strong transcription	Primary B cells from cord blood	blood
46	chr15:52907600-52916200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr15:52907800-52917000	Strong transcription	Fetal Thymus	thymus
48	chr15:52908200-52918600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:52908400-52916400	Weak transcription	HepG2	liver
50	chr15:52908400-52916800	Strong transcription	Thymus	Thymus

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