Variant report

Variant	rs73427517
Chromosome Location	chr11:3962090-3962091
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3959785..3962625-chr11:3963394..3965455,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16929551	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16929583	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35960304	1.00[AMR][1000 genomes]
rs56724828	1.00[AMR][1000 genomes]
rs57599213	1.00[AMR][1000 genomes]
rs57719656	1.00[AMR][1000 genomes]
rs58288151	1.00[AMR][1000 genomes]
rs58677531	1.00[AMR][1000 genomes]
rs59787805	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59984032	1.00[AMR][1000 genomes]
rs60473343	1.00[AMR][1000 genomes]
rs73417145	1.00[AMR][1000 genomes]
rs73417150	1.00[AMR][1000 genomes]
rs73417174	1.00[AMR][1000 genomes]
rs73425486	1.00[AMR][1000 genomes]
rs73425494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427519	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427545	1.00[AMR][1000 genomes]
rs73427556	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427572	1.00[AMR][1000 genomes]
rs73429609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429626	1.00[AMR][1000 genomes]
rs73429638	1.00[AMR][1000 genomes]
rs73431611	1.00[AMR][1000 genomes]
rs73431633	1.00[AMR][1000 genomes]
rs73431657	1.00[AMR][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:83 , 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	chr11:3951200-3965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:3951200-3967600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:3951400-3963400	Weak transcription	A549	lung
5	chr11:3951400-3963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:3951600-3963400	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:3952000-3963400	Weak transcription	Pancreas	Pancrea
8	chr11:3954000-3963800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:3954800-3963200	Weak transcription	Liver	Liver
10	chr11:3955400-3963400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:3955800-3963200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:3955800-3963200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:3955800-3963400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:3956200-3962400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:3956200-3963400	Weak transcription	K562	blood
16	chr11:3956200-3964000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:3956600-3963000	Weak transcription	Right Ventricle	heart
18	chr11:3956600-3963400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:3956800-3962600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:3957000-3963400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:3957800-3963000	Weak transcription	HepG2	liver
22	chr11:3958000-3963400	Weak transcription	Spleen	Spleen
23	chr11:3958400-3963000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr11:3958400-3963000	Weak transcription	Fetal Thymus	thymus
25	chr11:3958400-3963400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:3958800-3968000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:3959000-3963000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:3959600-3963800	Weak transcription	Fetal Lung	lung
29	chr11:3959800-3962200	Enhancers	Adipose Nuclei	Adipose
30	chr11:3959800-3962400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:3960000-3963000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:3960000-3963400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:3960000-3967600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:3960200-3967600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:3961000-3964200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:3961200-3962200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:3961200-3962400	Weak transcription	Thymus	Thymus
38	chr11:3961200-3963000	Weak transcription	GM12878-XiMat	blood
39	chr11:3961200-3963600	Weak transcription	Stomach Mucosa	stomach
40	chr11:3961200-3964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:3961400-3962800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:3961400-3963400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr11:3961400-3963400	Weak transcription	Small Intestine	intestine
45	chr11:3961400-3963600	Enhancers	Primary T cells from cord blood	blood
46	chr11:3961400-3964400	Enhancers	Right Atrium	heart
47	chr11:3961400-3964800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:3961400-3965200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:3961400-3968600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:3961400-3968600	Enhancers	Skeletal Muscle Female	skeletal muscle

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