Variant report

Variant	rs72901281
Chromosome Location	chr11:33040563-33040564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33038166..33041060-chr11:33046643..33049387,2	MCF-7	breast:
2	chr11:33035440..33037281-chr11:33038611..33040663,2	K562	blood:
3	chr11:33032509..33034576-chr11:33039239..33041376,2	MCF-7	breast:
4	chr11:33040311..33043058-chr11:33088314..33090844,2	K562	blood:
5	chr11:33040431..33043314-chr11:33047289..33049543,3	K562	blood:

Variant related genes	Relation type
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10430851	0.93[EUR][1000 genomes]
rs10767981	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032141	0.89[EUR][1000 genomes]
rs2273539	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs28406816	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382878	0.85[EUR][1000 genomes]
rs4439489	0.84[AFR][1000 genomes]
rs4561187	0.95[EUR][1000 genomes]
rs7108667	0.91[EUR][1000 genomes]
rs7121724	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129799	0.94[EUR][1000 genomes]
rs72901275	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7951757	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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 miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	65 gene(s)	inside rSNPs	diseases
14	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv983180	chr11:33026769-33041930	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs72901281	TCP11L1	cis	Artery Tibial	GTEx
rs72901281	PIGCP1	cis	Skin Sun Exposed Lower leg	GTEx
rs72901281	TCP11L1	cis	Whole Blood	GTEx
rs72901281	PIGCP1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33038200-33041000	Weak transcription	Aorta	Aorta
2	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:33038400-33043000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:33038800-33040600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:33038800-33049800	Weak transcription	HMEC	breast
6	chr11:33039200-33040800	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:33039200-33043200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:33039200-33043200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:33039200-33043200	Weak transcription	Pancreas	Pancrea
10	chr11:33039200-33046800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:33039200-33047400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:33039200-33048400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:33039200-33053800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:33039200-33060200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:33039400-33042800	Weak transcription	A549	lung
16	chr11:33039400-33043200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:33039400-33043200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:33039400-33043400	Weak transcription	Osteobl	bone
19	chr11:33039400-33046000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:33039400-33046800	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:33039400-33048400	Weak transcription	NHDF-Ad	bronchial
22	chr11:33039400-33049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:33039400-33050000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:33039600-33040800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:33039600-33042800	Weak transcription	HSMMtube	muscle
27	chr11:33039600-33046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:33039600-33047400	Weak transcription	K562	blood
29	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:33039800-33040600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:33039800-33040600	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:33039800-33040800	Enhancers	Hela-S3	cervix
33	chr11:33039800-33041000	Flanking Active TSS	HepG2	liver
34	chr11:33039800-33043000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:33039800-33045200	Weak transcription	Brain Substantia Nigra	brain
36	chr11:33039800-33047000	Enhancers	Fetal Intestine Small	intestine
37	chr11:33040200-33044600	Enhancers	Fetal Intestine Large	intestine
38	chr11:33040200-33048400	Weak transcription	NHEK	skin
39	chr11:33040400-33040600	Enhancers	Primary T cells from cord blood	blood
40	chr11:33040400-33040600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:33040400-33040800	Enhancers	Fetal Lung	lung
42	chr11:33040400-33040800	Enhancers	Psoas Muscle	Psoas
43	chr11:33040400-33040800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:33040400-33040800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:33040400-33040800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:33040400-33041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:33040400-33041000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:33040400-33041000	Flanking Active TSS	Liver	Liver
49	chr11:33040400-33041000	Genic enhancers	HSMM	muscle

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