Variant report

Variant	rs73427533
Chromosome Location	chr11:3974853-3974854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3973583..3975273-chr11:3982575..3984995,2	K562	blood:
2	chr11:3972776..3975865-chr11:3976108..3980315,4	K562	blood:
3	chr11:3888173..3890485-chr11:3973419..3975763,2	K562	blood:
4	chr11:3945861..3948795-chr11:3974406..3976438,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16929441	1.00[AMR][1000 genomes]
rs16929446	1.00[AMR][1000 genomes]
rs16929495	1.00[AMR][1000 genomes]
rs56167289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58102592	1.00[AMR][1000 genomes]
rs58280202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425467	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429606	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73429610	0.91[AFR][1000 genomes]
rs73429613	0.87[AFR][1000 genomes]
rs74050953	1.00[AMR][1000 genomes]
rs74051561	1.00[AMR][1000 genomes]
rs74051567	1.00[AMR][1000 genomes]
rs74051569	1.00[AMR][1000 genomes]
rs74051572	1.00[AMR][1000 genomes]
rs74051576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3961600-3975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:3969000-3975400	Weak transcription	NHDF-Ad	bronchial
5	chr11:3969000-3980400	Weak transcription	NHLF	lung
6	chr11:3969400-3975200	Weak transcription	Aorta	Aorta
7	chr11:3969400-3975200	Weak transcription	NHEK	skin
8	chr11:3969400-3975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:3969400-3976800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:3969400-3980000	Weak transcription	Liver	Liver
11	chr11:3969600-3977800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:3970200-3976200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:3970200-3977200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:3970600-3976000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:3970600-3978000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:3970800-3977000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:3970800-3977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:3971200-3975600	Enhancers	Dnd41	blood
20	chr11:3971400-3975400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:3971400-3975400	Enhancers	Psoas Muscle	Psoas
22	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:3972000-3976200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:3972400-3975200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:3972600-3975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:3972600-3975600	Weak transcription	Lung	lung
27	chr11:3972600-3976000	Weak transcription	GM12878-XiMat	blood
28	chr11:3972800-3979400	Weak transcription	HepG2	liver
29	chr11:3972800-3979600	Weak transcription	A549	lung
30	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:3973000-3975400	Genic enhancers	Fetal Thymus	thymus
32	chr11:3973000-3976200	Enhancers	Thymus	Thymus
33	chr11:3973000-3977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:3973000-3977800	Enhancers	Primary T cells from cord blood	blood
35	chr11:3973000-3978000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:3973200-3975200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:3973200-3975400	Weak transcription	Osteobl	bone
39	chr11:3973200-3975600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:3973200-3981000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:3973200-3982400	Weak transcription	Primary B cells from cord blood	blood
42	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
45	chr11:3973600-3975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:3973600-3977400	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:3973800-3975600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:3973800-3979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:3974000-3975800	Enhancers	Esophagus	oesophagus

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