Variant report

Variant	rs72930433
Chromosome Location	chr11:34918570-34918571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];0.96[EUR][1000 genomes]
rs10836317	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1117050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11539202	0.86[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]
rs11602584	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[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];0.83[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];0.82[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];0.96[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];0.96[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];0.98[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];0.94[EUR][1000 genomes]
rs17434946	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17711539	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17783998	0.82[AMR][1000 genomes]
rs17784324	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2217479	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[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];0.94[EUR][1000 genomes]
rs3852516	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3852517	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4534556	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55672020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55868872	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55911702	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55929026	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55957800	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56061305	0.84[EUR][1000 genomes]
rs61734605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7110461	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72912924	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72912934	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72914758	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72922479	0.82[AMR][1000 genomes]
rs72922482	0.82[AMR][1000 genomes]
rs72924508	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72924541	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72924562	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72926580	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72928507	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];0.87[EUR][1000 genomes]
rs7948977	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7950996	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[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
rs72930433	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs72930433	APIP	cis	Heart Left Ventricle	GTEx
rs72930433	APIP	cis	Artery Tibial	GTEx
rs72930433	APIP	cis	Nerve Tibial	GTEx
rs72930433	APIP	cis	Artery Aorta	GTEx
rs72930433	APIP	cis	Stomach	GTEx
rs72930433	APIP	cis	lung	GTEx
rs72930433	APIP	cis	Thyroid	GTEx
rs72930433	APIP	cis	Adipose Subcutaneous	GTEx
rs72930433	APIP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:38 , 50 per page) page: 1

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	chr11:34900200-34921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:34901400-34920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:34902000-34921600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:34903600-34919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:34904000-34918600	Weak transcription	NHDF-Ad	bronchial
13	chr11:34908400-34921200	Weak transcription	Aorta	Aorta
14	chr11:34908800-34921000	Weak transcription	Ovary	ovary
15	chr11:34909200-34919200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:34909800-34921600	Weak transcription	Stomach Mucosa	stomach
17	chr11:34910200-34919400	Weak transcription	Thymus	Thymus
18	chr11:34910600-34919400	Weak transcription	Placenta	Placenta
19	chr11:34912400-34919200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:34913400-34920800	Weak transcription	A549	lung
21	chr11:34913400-34921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:34913600-34920800	Weak transcription	HepG2	liver
23	chr11:34913600-34929800	Weak transcription	K562	blood
24	chr11:34914200-34918800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:34917600-34931000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:34917800-34919800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr11:34917800-34925000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:34918000-34918600	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr11:34918000-34926200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:34918200-34918600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:34918200-34919000	ZNF genes & repeats	Dnd41	blood
32	chr11:34918200-34919800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr11:34918200-34920200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr11:34918200-34923800	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr11:34918200-34923800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr11:34918200-34924600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
37	chr11:34918200-34925800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:34918200-34928600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links