Variant report

Variant	rs72901277
Chromosome Location	chr11:33038469-33038470
allele	G/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	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
3	chr11:33037810..33039404-chr11:33046604..33049179,2	K562	blood:
4	chr11:33035752..33039107-chr11:33059295..33062622,5	K562	blood:

Variant related genes	Relation type
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2273545	1.00[ASN][1000 genomes]
rs72901279	0.91[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72901277	TCP11L1	cis	Whole Blood	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33036800-33039400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:33037000-33038600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:33037000-33038600	Active TSS	Brain Hippocampus Middle	brain
4	chr11:33037000-33038600	Active TSS	Fetal Brain Female	brain
5	chr11:33037000-33038800	Active TSS	HSMM	muscle
6	chr11:33037000-33039000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:33037000-33039200	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:33037000-33039200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:33037000-33039400	Active TSS	Brain Angular Gyrus	brain
10	chr11:33037000-33039800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:33037200-33038600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:33037200-33038600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:33037200-33039200	Active TSS	Fetal Kidney	kidney
14	chr11:33037200-33039800	Active TSS	Duodenum Mucosa	Duodenum
15	chr11:33037200-33039800	Active TSS	Fetal Intestine Small	intestine
16	chr11:33037800-33038600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:33037800-33038600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:33037800-33038600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:33037800-33038600	Flanking Active TSS	HMEC	breast
20	chr11:33037800-33038800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:33037800-33038800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:33037800-33039000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:33037800-33039000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:33038000-33038600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr11:33038000-33038600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:33038000-33038600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:33038000-33038600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:33038000-33038600	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr11:33038000-33038600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:33038000-33038800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr11:33038000-33038800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:33038000-33038800	Flanking Active TSS	A549	lung
33	chr11:33038000-33038800	Flanking Active TSS	Osteobl	bone
34	chr11:33038000-33039000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:33038000-33039000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr11:33038000-33039800	Flanking Active TSS	Hela-S3	cervix
37	chr11:33038200-33038600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr11:33038200-33038600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:33038200-33038600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:33038200-33038600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:33038200-33038600	Bivalent Enhancer	Fetal Heart	heart
42	chr11:33038200-33038600	Bivalent Enhancer	Fetal Thymus	thymus
43	chr11:33038200-33038600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr11:33038200-33038800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:33038200-33038800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:33038200-33038800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr11:33038200-33039000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:33038200-33039000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
49	chr11:33038200-33039000	Active TSS	Fetal Muscle Trunk	muscle
50	chr11:33038200-33039000	Active TSS	Fetal Muscle Leg	muscle

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