Variant report

Variant	rs74051567
Chromosome Location	chr11:3977155-3977156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3972776..3975865-chr11:3976108..3980315,4	K562	blood:
2	chr11:3975898..3977886-chr11:3979851..3982508,2	K562	blood:

Variant related genes	Relation type
ENSG00000255232	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16929441	1.00[AMR][1000 genomes]
rs16929446	1.00[AMR][1000 genomes]
rs16929495	1.00[AMR][1000 genomes]
rs56167289	1.00[AMR][1000 genomes]
rs58102592	1.00[AMR][1000 genomes]
rs58280202	1.00[AMR][1000 genomes]
rs73425467	1.00[AMR][1000 genomes]
rs73425479	1.00[AMR][1000 genomes]
rs73425485	1.00[AMR][1000 genomes]
rs73427515	1.00[AMR][1000 genomes]
rs73427533	1.00[AMR][1000 genomes]
rs73427551	1.00[AMR][1000 genomes]
rs73427553	1.00[AMR][1000 genomes]
rs73427554	1.00[AMR][1000 genomes]
rs73427559	1.00[AMR][1000 genomes]
rs73429606	1.00[AMR][1000 genomes]
rs74050953	1.00[AMR][1000 genomes]
rs74051561	1.00[AMR][1000 genomes]
rs74051569	1.00[AMR][1000 genomes]
rs74051572	1.00[AMR][1000 genomes]
rs74051576	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:67 , 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	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:3969000-3980400	Weak transcription	NHLF	lung
4	chr11:3969400-3980000	Weak transcription	Liver	Liver
5	chr11:3969600-3977800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:3970200-3977200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:3970600-3978000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:3970800-3977800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:3972800-3979400	Weak transcription	HepG2	liver
12	chr11:3972800-3979600	Weak transcription	A549	lung
13	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:3973000-3977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:3973000-3977800	Enhancers	Primary T cells from cord blood	blood
16	chr11:3973000-3978000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:3973200-3981000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:3973200-3982400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
23	chr11:3973600-3977400	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:3973800-3979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:3974000-3977400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:3974200-3982200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:3974400-3977800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:3974400-3980400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:3974400-3983400	Weak transcription	Small Intestine	intestine
31	chr11:3974600-3977400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:3974600-3977400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:3974600-3977600	Enhancers	HMEC	breast
34	chr11:3974800-3977800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:3974800-3979600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:3974800-3988200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:3974800-3988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:3975000-3977400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
40	chr11:3975200-3977600	Enhancers	NHEK	skin
41	chr11:3975400-3977600	Enhancers	Fetal Thymus	thymus
42	chr11:3975400-3979800	Weak transcription	Psoas Muscle	Psoas
43	chr11:3975600-3988600	Weak transcription	Dnd41	blood
44	chr11:3975600-3988800	Weak transcription	Aorta	Aorta
45	chr11:3975800-3978400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:3975800-3979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:3975800-3984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:3975800-3988800	Weak transcription	Esophagus	oesophagus
49	chr11:3976000-3977800	Enhancers	GM12878-XiMat	blood
50	chr11:3976000-3980400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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