Variant report

Variant	rs72733445
Chromosome Location	chr15:40719442-40719443
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40718096..40719599-chr15:40728786..40730552,2	K562	blood:
2	chr15:40715093..40719455-chr15:40720778..40725123,5	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11541641	0.90[EUR][1000 genomes]
rs11541643	0.90[EUR][1000 genomes]
rs12185076	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16970653	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16970660	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2229312	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28379196	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6492944	0.90[EUR][1000 genomes]
rs68169695	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7176592	0.90[EUR][1000 genomes]
rs7177949	0.90[EUR][1000 genomes]
rs72733427	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72733428	0.90[EUR][1000 genomes]
rs72733434	0.90[EUR][1000 genomes]
rs72733437	0.90[EUR][1000 genomes]
rs72733442	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733444	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72733449	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733450	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733453	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383135	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8031814	0.90[EUR][1000 genomes]
rs8031994	0.90[EUR][1000 genomes]
rs8032114	0.89[EUR][1000 genomes]
rs8036457	0.90[EUR][1000 genomes]
rs8037941	0.90[EUR][1000 genomes]
rs875767	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72733445	ZFYVE19	cis	brain	BrainEAC

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40705600-40727200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:40708400-40721200	Weak transcription	Fetal Kidney	kidney
3	chr15:40708400-40728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:40710800-40727000	Weak transcription	Primary T cells from cord blood	blood
5	chr15:40710800-40728000	Weak transcription	Aorta	Aorta
6	chr15:40711000-40721400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:40711000-40722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:40711000-40724800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:40711800-40726600	Weak transcription	Thymus	Thymus
10	chr15:40714200-40720200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:40714200-40722400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:40714200-40726800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:40714200-40727800	Weak transcription	Brain Angular Gyrus	brain
14	chr15:40714200-40727800	Weak transcription	Esophagus	oesophagus
15	chr15:40714200-40728000	Weak transcription	Brain Substantia Nigra	brain
16	chr15:40714200-40728000	Weak transcription	Right Ventricle	heart
17	chr15:40714400-40719800	Weak transcription	Colon Smooth Muscle	Colon
18	chr15:40714400-40720200	Weak transcription	Fetal Brain Female	brain
19	chr15:40714400-40720600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:40714400-40721400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:40714400-40722200	Weak transcription	Adipose Nuclei	Adipose
22	chr15:40714400-40722200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:40714400-40722400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:40714400-40722400	Weak transcription	HSMM	muscle
25	chr15:40714400-40725000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:40714400-40726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:40714400-40727800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:40714400-40727800	Weak transcription	Right Atrium	heart
29	chr15:40714400-40728000	Weak transcription	Brain Anterior Caudate	brain
30	chr15:40714600-40720200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr15:40714600-40722800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:40714600-40724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:40716000-40720600	Strong transcription	Fetal Stomach	stomach
34	chr15:40717200-40723400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:40718800-40719600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:40719000-40719800	Strong transcription	Fetal Intestine Small	intestine
37	chr15:40719200-40719600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:40719200-40719600	Enhancers	Spleen	Spleen
39	chr15:40719200-40719800	Strong transcription	Ovary	ovary
40	chr15:40719200-40719800	Flanking Active TSS	K562	blood
41	chr15:40719200-40720400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr15:40719400-40719600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr15:40719400-40719600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40719400-40719600	ZNF genes & repeats	Lung	lung
45	chr15:40719400-40719600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:40719400-40719800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr15:40719400-40719800	Enhancers	Fetal Thymus	thymus
48	chr15:40719400-40719800	ZNF genes & repeats	Gastric	stomach
49	chr15:40719400-40720200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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