Variant report

Variant	rs10767981
Chromosome Location	chr11:33043577-33043578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33041861..33044073-chr11:33051404..33053946,2	K562	blood:
2	chr11:33043183..33045594-chr11:33046266..33049632,4	K562	blood:
3	chr11:33043473..33045913-chr11:33047452..33049632,3	K562	blood:
4	chr11:33036501..33039297-chr11:33041547..33045003,7	K562	blood:

Variant related genes	Relation type
ENSG00000121690	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10430851	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11032141	0.90[EUR][1000 genomes]
rs2273539	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28406816	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275605	0.80[EUR][1000 genomes]
rs4382878	0.85[EUR][1000 genomes]
rs4439489	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4561187	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7108667	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7121724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129799	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72901275	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72901281	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951757	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
21	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
23	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
24	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10767981	TCP11L1	cis	Whole Blood	GTEx
rs10767981	TCP11L1	cis	Artery Tibial	GTEx
rs10767981	TCP11L1	Cis_1M	lymphoblastoid	RTeQTL
rs10767981	LOC283267	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33038800-33049800	Weak transcription	HMEC	breast
3	chr11:33039200-33046800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:33039200-33047400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:33039200-33048400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:33039200-33053800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:33039200-33060200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:33039400-33046000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:33039400-33046800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:33039400-33048400	Weak transcription	NHDF-Ad	bronchial
11	chr11:33039400-33049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:33039400-33050000	Weak transcription	Brain Angular Gyrus	brain
13	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:33039600-33046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:33039600-33047400	Weak transcription	K562	blood
16	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:33039800-33045200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:33039800-33047000	Enhancers	Fetal Intestine Small	intestine
19	chr11:33040200-33044600	Enhancers	Fetal Intestine Large	intestine
20	chr11:33040200-33048400	Weak transcription	NHEK	skin
21	chr11:33040800-33046600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:33040800-33049400	Weak transcription	Psoas Muscle	Psoas
23	chr11:33040800-33060200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:33040800-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:33041000-33044000	Enhancers	HepG2	liver
26	chr11:33041000-33052400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:33041400-33060200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:33041600-33044200	Enhancers	Liver	Liver
29	chr11:33042600-33044000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:33042800-33043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:33042800-33043800	Enhancers	Fetal Lung	lung
32	chr11:33042800-33043800	Enhancers	A549	lung
33	chr11:33042800-33044600	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:33043000-33043600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:33043000-33043800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:33043000-33043800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:33043000-33043800	Enhancers	Hela-S3	cervix
38	chr11:33043000-33044000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:33043000-33044000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:33043000-33044000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:33043000-33044200	Enhancers	Primary T cells from cord blood	blood
42	chr11:33043000-33044400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:33043000-33044400	Enhancers	Fetal Kidney	kidney
44	chr11:33043200-33043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:33043200-33043600	Enhancers	Small Intestine	intestine
46	chr11:33043200-33043800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:33043200-33043800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:33043200-33043800	Genic enhancers	HSMM	muscle
49	chr11:33043200-33044000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:33043200-33044000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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