Variant report

Variant	rs72928507
Chromosome Location	chr11:34917272-34917273
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	chr11:34905872..34908385-chr11:34915875..34918496,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10488802	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10836317	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1117050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11539202	0.85[EUR][1000 genomes]
rs11601737	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11602364	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11602584	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11605600	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11605972	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11605993	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11606580	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11606871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607986	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11608116	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1409718	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17347979	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17348697	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17348711	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17349298	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17363135	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17432226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17433496	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17434808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17434946	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17711539	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17783998	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17784324	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2217479	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2421744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3852515	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3852516	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3852517	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4534556	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55672020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55868872	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55911702	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55929026	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55957800	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56061305	0.85[EUR][1000 genomes]
rs61734605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110461	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72912924	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72912934	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72914758	0.83[AFR][1000 genomes]
rs72922479	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72922482	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72924508	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72924541	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72924562	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72926580	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72930433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72930443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72930458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72930462	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930468	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72930480	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7479823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7937316	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7948977	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7950996	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[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	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv8807	chr11:34912167-34930289	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
6	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs72928507	APIP	cis	Heart Left Ventricle	GTEx
rs72928507	APIP	cis	Artery Tibial	GTEx
rs72928507	APIP	cis	lung	GTEx
rs72928507	APIP	cis	Thyroid	GTEx
rs72928507	APIP	cis	Nerve Tibial	GTEx
rs72928507	APIP	cis	Stomach	GTEx
rs72928507	APIP	cis	Artery Aorta	GTEx
rs72928507	APIP	cis	Esophagus Muscularis	GTEx
rs72928507	APIP	cis	Adipose Subcutaneous	GTEx
rs72928507	APIP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34882000-34919800	Weak transcription	Left Ventricle	heart
2	chr11:34891200-34919200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:34893000-34921400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:34895000-34921200	Weak transcription	Right Ventricle	heart
5	chr11:34897000-34919200	Weak transcription	Fetal Stomach	stomach
6	chr11:34897600-34919200	Weak transcription	Fetal Heart	heart
7	chr11:34898200-34926800	Weak transcription	HSMMtube	muscle
8	chr11:34899000-34917400	Weak transcription	HSMM	muscle
9	chr11:34900000-34918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:34901400-34917400	Weak transcription	Fetal Kidney	kidney
12	chr11:34901400-34920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:34901600-34918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:34902000-34921600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:34903600-34919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:34904000-34918600	Weak transcription	NHDF-Ad	bronchial
17	chr11:34905000-34917800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:34905200-34917800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:34907200-34918200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:34907400-34917800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:34907800-34918000	Weak transcription	Fetal Intestine Large	intestine
22	chr11:34908400-34921200	Weak transcription	Aorta	Aorta
23	chr11:34908600-34917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:34908800-34921000	Weak transcription	Ovary	ovary
25	chr11:34909200-34919200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:34909400-34918200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:34909600-34918200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:34909800-34921600	Weak transcription	Stomach Mucosa	stomach
29	chr11:34910000-34918200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:34910200-34917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:34910200-34917800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:34910200-34918000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:34910200-34918000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:34910200-34918400	Weak transcription	Fetal Lung	lung
35	chr11:34910200-34919400	Weak transcription	Thymus	Thymus
36	chr11:34910400-34918000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:34910400-34918200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:34910400-34918200	Weak transcription	Dnd41	blood
39	chr11:34910600-34917800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:34910600-34918200	Weak transcription	Fetal Thymus	thymus
41	chr11:34910600-34919400	Weak transcription	Placenta	Placenta
42	chr11:34911400-34918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:34912400-34919200	Weak transcription	Adipose Nuclei	Adipose
44	chr11:34913200-34917800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:34913400-34918000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:34913400-34918200	Weak transcription	Primary B cells from cord blood	blood
47	chr11:34913400-34920800	Weak transcription	A549	lung
48	chr11:34913400-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:34913600-34920800	Weak transcription	HepG2	liver
50	chr11:34913600-34929800	Weak transcription	K562	blood

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