Variant report

Variant	rs56126231
Chromosome Location	chr11:3965544-3965545
allele	C/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	CTCF	chr11:3965540-3965690	AG10803	skin:	n/a	chr11:3965619-3965632

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3963150..3965730-chr11:3971154..3972718,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10430939	0.92[ASN][1000 genomes]
rs10458900	0.80[ASN][1000 genomes]
rs10500591	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030251	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11030286	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11030326	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11030327	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11030366	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030417	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11030418	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030453	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030478	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030479	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030481	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030484	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030485	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030486	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11030697	0.86[ASN][1000 genomes]
rs11030796	0.81[ASN][1000 genomes]
rs11525342	0.86[ASN][1000 genomes]
rs11529865	0.86[ASN][1000 genomes]
rs12222250	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12224469	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372803	0.84[ASN][1000 genomes]
rs16929438	0.80[ASN][1000 genomes]
rs16929477	0.84[ASN][1000 genomes]
rs16929480	0.84[ASN][1000 genomes]
rs16929488	0.84[ASN][1000 genomes]
rs16929492	0.86[ASN][1000 genomes]
rs16929529	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929531	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929538	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929540	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16929542	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16929546	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16929611	0.99[ASN][1000 genomes]
rs16929616	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16929653	0.88[ASN][1000 genomes]
rs1822286	0.82[ASN][1000 genomes]
rs1899478	0.81[ASN][1000 genomes]
rs2167563	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750994	0.80[ASN][1000 genomes]
rs55679086	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55978228	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56140937	0.80[ASN][1000 genomes]
rs59195871	0.92[ASN][1000 genomes]
rs59242983	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60930198	0.88[ASN][1000 genomes]
rs61897162	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61897163	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61897164	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61897166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897167	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61897170	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61897195	1.00[ASN][1000 genomes]
rs61897201	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61897202	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61897203	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61897234	0.85[ASN][1000 genomes]
rs61897237	0.84[ASN][1000 genomes]
rs61897238	0.82[ASN][1000 genomes]
rs61897254	0.80[ASN][1000 genomes]
rs6578423	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs723779	0.92[ASN][1000 genomes]
rs72847181	0.81[ASN][1000 genomes]
rs72851736	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs750526	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7941743	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs894454	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:3951200-3967600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:3958800-3968000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:3960000-3967600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:3960200-3967600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:3961400-3968600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:3961400-3968600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr11:3961400-3969200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:3961600-3966400	Enhancers	NHDF-Ad	bronchial
11	chr11:3961600-3967600	Weak transcription	Brain Angular Gyrus	brain
12	chr11:3961600-3967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:3961600-3968000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:3961600-3968400	Weak transcription	NHEK	skin
15	chr11:3961600-3975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:3961800-3965600	Weak transcription	NHLF	lung
17	chr11:3961800-3968000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:3962000-3971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:3962000-3973400	Weak transcription	Ovary	ovary
20	chr11:3962400-3968000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:3962400-3968400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr11:3962600-3968200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:3963000-3966400	Enhancers	Psoas Muscle	Psoas
24	chr11:3963000-3967000	Enhancers	Fetal Thymus	thymus
25	chr11:3963000-3968600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:3963000-3973200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:3963200-3967800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:3963200-3968400	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:3963400-3965600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:3963400-3965800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:3963400-3966000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:3963400-3966200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:3963400-3966200	Enhancers	Fetal Muscle Leg	muscle
34	chr11:3963400-3966200	Enhancers	Gastric	stomach
35	chr11:3963400-3966200	Enhancers	Osteobl	bone
36	chr11:3963400-3966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:3963400-3969400	Enhancers	Adipose Nuclei	Adipose
38	chr11:3963400-3969400	Enhancers	Left Ventricle	heart
39	chr11:3963600-3967800	Weak transcription	Colonic Mucosa	Colon
40	chr11:3963800-3965600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:3963800-3965800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:3963800-3965800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:3963800-3966000	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:3963800-3966400	Enhancers	Fetal Lung	lung
45	chr11:3963800-3967200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:3964000-3966200	Enhancers	Fetal Heart	heart
47	chr11:3964200-3965600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:3964200-3965600	Weak transcription	Pancreas	Pancrea
49	chr11:3964200-3966000	Enhancers	Thymus	Thymus
50	chr11:3964200-3967000	Weak transcription	Rectal Smooth Muscle	rectum

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