Variant report

Variant	rs72901275
Chromosome Location	chr11:33036177-33036178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr11:33035930-33036272	GM12878	blood:	n/a	chr11:33036127-33036137 chr11:33036126-33036137 chr11:33036126-33036139
2	EBF1	chr11:33035958-33036330	GM12878	blood:	n/a	chr11:33036127-33036137 chr11:33036126-33036137 chr11:33036126-33036139

No.	Distal block	Cell Line	Cell type
1	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
2	chr11:33035752..33039107-chr11:33059295..33062622,5	K562	blood:
3	chr11:32912742..32915744-chr11:33035300..33038153,5	K562	blood:
4	chr11:33024197..33025927-chr11:33034012..33036342,2	K562	blood:
5	chr11:33035440..33037281-chr11:33038611..33040663,2	K562	blood:

Variant related genes	Relation type
DEPDC7	TF binding region
ENSG00000060749	Chromatin interaction
ENSG00000200615	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10767981	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28406816	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7121724	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72901281	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72901275	TCP11L1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33033600-33037000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:33033800-33036800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:33033800-33037000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:33033800-33037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:33033800-33037000	Weak transcription	Colonic Mucosa	Colon
6	chr11:33034000-33036400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:33034000-33037000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:33034000-33037000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:33034000-33037000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:33034000-33037000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:33034000-33037000	Weak transcription	HMEC	breast
12	chr11:33034000-33037000	Weak transcription	NHDF-Ad	bronchial
13	chr11:33034000-33037000	Weak transcription	Osteobl	bone
14	chr11:33034000-33037200	Weak transcription	NHLF	lung
15	chr11:33034000-33037400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:33034200-33037000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:33034200-33037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:33034200-33037000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:33034200-33037000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:33034200-33037000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:33034200-33037000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:33034200-33037000	Weak transcription	NHEK	skin
23	chr11:33034200-33037200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:33034200-33037200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:33034200-33037200	Weak transcription	GM12878-XiMat	blood
26	chr11:33034200-33037200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:33034200-33037400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:33034400-33036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:33034400-33037000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:33034400-33037000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:33034400-33037000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:33034400-33037000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:33034400-33037000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:33034400-33037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:33034400-33037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:33034400-33037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:33034400-33037400	Weak transcription	Primary T cells from cord blood	blood
38	chr11:33034400-33037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:33035000-33036400	Enhancers	Fetal Intestine Small	intestine
40	chr11:33035000-33037000	Enhancers	Fetal Intestine Large	intestine
41	chr11:33035200-33036200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:33035200-33036400	Enhancers	Hela-S3	cervix
43	chr11:33035600-33036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:33035600-33037000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:33035600-33037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:33035600-33037200	Weak transcription	A549	lung
47	chr11:33035800-33037000	Weak transcription	HSMM	muscle
48	chr11:33036000-33036200	Flanking Active TSS	Liver	Liver
49	chr11:33036000-33036400	Flanking Active TSS	HepG2	liver
50	chr11:33036000-33037000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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