Variant report

Variant	rs73404255
Chromosome Location	chr11:5732962-5732963
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12417798	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418644	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419535	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419560	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34197165	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57181348	0.97[EUR][1000 genomes]
rs61735276	0.97[EUR][1000 genomes]
rs73404203	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73404206	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73404207	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73404232	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404254	0.97[EUR][1000 genomes]
rs73404258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404271	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404273	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised 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	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:5713600-5734800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:5713600-5745800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:5715200-5733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:5717400-5734400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:5718000-5734600	Weak transcription	HUVEC	blood vessel
7	chr11:5722600-5733000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:5723000-5733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:5723400-5733800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:5723800-5733000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:5725400-5733600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:5729800-5733000	Strong transcription	GM12878-XiMat	blood
13	chr11:5730400-5733600	Weak transcription	NHDF-Ad	bronchial
14	chr11:5730400-5736000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:5730800-5733600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:5731000-5733600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:5731000-5734000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:5731000-5734200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:5731000-5741000	Weak transcription	HSMMtube	muscle
20	chr11:5731000-5743800	Weak transcription	Liver	Liver
21	chr11:5731200-5733000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:5731200-5733200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:5731200-5733400	Weak transcription	Left Ventricle	heart
24	chr11:5731200-5734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:5731200-5734600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:5731200-5734800	Weak transcription	Lung	lung
27	chr11:5731200-5735200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:5731200-5736400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:5731200-5740600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:5731200-5740600	Weak transcription	Primary B cells from cord blood	blood
31	chr11:5731200-5740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:5731200-5740600	Weak transcription	Adipose Nuclei	Adipose
33	chr11:5731200-5741000	Weak transcription	Osteobl	bone
34	chr11:5731200-5748000	Weak transcription	Spleen	Spleen
35	chr11:5731200-5748200	Weak transcription	Placenta	Placenta
36	chr11:5731200-5749200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:5731400-5733000	Weak transcription	Fetal Thymus	thymus
38	chr11:5731400-5733200	Weak transcription	Dnd41	blood
39	chr11:5731400-5733800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:5731400-5735400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:5731400-5736200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:5731600-5734800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:5731600-5737600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:5731800-5734200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:5731800-5734400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:5731800-5742400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:5732400-5742000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:5732400-5742200	Weak transcription	Ovary	ovary
49	chr11:5732400-5743000	Weak transcription	Primary T cells from cord blood	blood
50	chr11:5732400-5750000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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