Variant report

Variant	rs1530566
Chromosome Location	chr11:18722158-18722159
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18719268..18720951-chr11:18721936..18724231,2	MCF-7	breast:
2	chr11:18655737..18658361-chr11:18720798..18722992,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151117	Chromatin interaction
ENSG00000179119	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3887899	1.00[AMR][1000 genomes]
rs7945285	1.00[AMR][1000 genomes]
rs7947174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18719200-18722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:18720800-18722200	Flanking Active TSS	Fetal Lung	lung
3	chr11:18720800-18722200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr11:18720800-18722200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:18720800-18722400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:18720800-18727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:18721000-18722400	Enhancers	Fetal Brain Male	brain
8	chr11:18721000-18722400	Enhancers	Pancreas	Pancrea
9	chr11:18721000-18722600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:18721000-18722600	Enhancers	Spleen	Spleen
11	chr11:18721000-18727400	Weak transcription	Aorta	Aorta
12	chr11:18721200-18722200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:18721200-18722200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr11:18721200-18722200	Enhancers	Psoas Muscle	Psoas
15	chr11:18721200-18722600	Enhancers	Lung	lung
16	chr11:18721200-18722600	Enhancers	HMEC	breast
17	chr11:18721200-18726600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:18721400-18722200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:18721400-18722200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:18721400-18722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:18721400-18722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:18721400-18722200	Enhancers	Left Ventricle	heart
23	chr11:18721400-18722400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:18721400-18722400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:18721400-18722400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:18721400-18722400	Enhancers	Fetal Stomach	stomach
27	chr11:18721400-18722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:18721400-18722600	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:18721400-18722800	Enhancers	Right Atrium	heart
30	chr11:18721400-18722800	Enhancers	HSMMtube	muscle
31	chr11:18721400-18723000	Enhancers	Right Ventricle	heart
32	chr11:18721400-18723200	Weak transcription	Thymus	Thymus
33	chr11:18721400-18726200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:18721400-18726400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:18721400-18726800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:18721400-18726800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:18721400-18726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:18721600-18722200	Enhancers	Liver	Liver
39	chr11:18721600-18722200	Enhancers	Brain Angular Gyrus	brain
40	chr11:18721600-18722200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:18721600-18722200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:18721600-18722400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:18721600-18722400	Enhancers	NHEK	skin
44	chr11:18721600-18722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:18721600-18722600	Enhancers	Fetal Muscle Leg	muscle
46	chr11:18721600-18722600	Active TSS	Stomach Smooth Muscle	stomach
47	chr11:18721600-18722800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:18721600-18722800	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:18721600-18723000	Weak transcription	Primary T cells from cord blood	blood
50	chr11:18721600-18723000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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