Variant report

Variant	rs11570115
Chromosome Location	chr11:47354905-47354906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47290102..47294520-chr11:47352678..47355861,4	K562	blood:
2	chr11:47347273..47351481-chr11:47353649..47359054,5	K562	blood:
3	chr11:47350500..47353711-chr11:47353800..47358007,4	MCF-7	breast:
4	chr11:47354148..47357317-chr11:47361021..47366088,5	K562	blood:
5	chr11:47344879..47353948-chr11:47354460..47361122,13	K562	blood:
6	chr11:47353935..47356696-chr11:47429697..47432072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256746	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11039281	1.00[AFR][1000 genomes]
rs35233100	1.00[AFR][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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv554209	chr11:47353498-47364127	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11570115	MADD	cis	cerebellum	SCAN
rs11570115	PACSIN3	cis	parietal	SCAN
rs11570115	CKAP5	cis	parietal	SCAN
rs11570115	MADD	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47294600-47355200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:47338800-47356200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:47343200-47370600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:47348000-47358200	Weak transcription	K562	blood
5	chr11:47348600-47355000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:47350400-47356800	Genic enhancers	Right Ventricle	heart
7	chr11:47350800-47357400	Weak transcription	HepG2	liver
8	chr11:47351000-47355800	Enhancers	Fetal Heart	heart
9	chr11:47351400-47358800	Weak transcription	Aorta	Aorta
10	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
11	chr11:47351600-47358400	Weak transcription	A549	lung
12	chr11:47351600-47358600	Weak transcription	Hela-S3	cervix
13	chr11:47352200-47355400	Weak transcription	Fetal Brain Female	brain
14	chr11:47352400-47355000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:47352400-47355200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:47352400-47355600	Weak transcription	Thymus	Thymus
17	chr11:47352400-47355800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:47352400-47356000	Strong transcription	Spleen	Spleen
19	chr11:47352400-47356200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:47352400-47364000	Weak transcription	Lung	lung
21	chr11:47352600-47355200	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:47352600-47356000	Weak transcription	NHLF	lung
23	chr11:47352600-47363200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:47352600-47366000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:47352800-47357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:47352800-47361600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:47353000-47357600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:47353000-47360600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:47353200-47355200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:47353200-47355400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:47353200-47356000	Weak transcription	NHEK	skin
32	chr11:47353200-47358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:47353400-47355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:47353400-47355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:47353400-47358400	Weak transcription	Placenta	Placenta
36	chr11:47353600-47358000	Weak transcription	Fetal Stomach	stomach
37	chr11:47353600-47362800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:47353800-47355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:47353800-47355000	Enhancers	Fetal Muscle Leg	muscle
41	chr11:47354000-47355000	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:47354000-47355400	Weak transcription	Fetal Thymus	thymus
43	chr11:47354000-47360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:47354000-47369800	Weak transcription	Right Atrium	heart
45	chr11:47354200-47355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:47354200-47358200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:47354200-47361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:47354400-47359200	Strong transcription	Left Ventricle	heart
49	chr11:47354400-47361600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:47354400-47362600	Weak transcription	Fetal Intestine Small	intestine

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