Variant report

Variant	rs4752991
Chromosome Location	chr11:47410568-47410569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:47410454-47411053	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:47409305-47412146	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:47409409-47413887	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47400738..47402278-chr11:47408307..47410990,2	MCF-7	breast:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47399283..47402217-chr11:47408896..47411189,2	K562	blood:
4	chr11:47408757..47411550-chr11:47413345..47415143,3	K562	blood:
5	chr11:47407132..47409487-chr11:47410035..47412468,2	K562	blood:
6	chr11:47408738..47410572-chr11:47416000..47417788,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265910	TF binding region
ENSG00000265910	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1017594	1.00[AFR][1000 genomes]
rs10466401	1.00[AFR][1000 genomes]
rs10742808	1.00[AFR][1000 genomes]
rs10769261	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10769269	1.00[AFR][1000 genomes]
rs10838701	1.00[AFR][1000 genomes]
rs11039196	1.00[AFR][1000 genomes]
rs11039228	1.00[AFR][1000 genomes]
rs11602132	1.00[AFR][1000 genomes]
rs2020057	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2084541	1.00[AFR][1000 genomes]
rs2868447	1.00[AFR][1000 genomes]
rs2868603	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4519056	1.00[AFR][1000 genomes]
rs4752826	1.00[AFR][1000 genomes]
rs4752831	1.00[AFR][1000 genomes]
rs4752841	1.00[AFR][1000 genomes]
rs4752982	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4752985	1.00[AFR][1000 genomes]
rs4752989	1.00[AFR][1000 genomes]
rs4752995	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485754	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6485757	1.00[YRI][hapmap]
rs7105005	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7116487	1.00[YRI][hapmap]
rs7119799	1.00[AFR][1000 genomes]
rs7932148	1.00[AFR][1000 genomes]
rs7934846	1.00[AFR][1000 genomes]
rs7940413	1.00[YRI][hapmap]
rs7951044	1.00[AFR][1000 genomes]
rs963331	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9666418	1.00[YRI][hapmap]

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	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	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47400000-47415200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:47400000-47416000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:47404400-47412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:47405000-47410600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:47405000-47412800	Weak transcription	K562	blood
10	chr11:47405400-47415000	Weak transcription	Right Atrium	heart
11	chr11:47408400-47418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:47408600-47416000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:47409200-47417800	Enhancers	Spleen	Spleen
14	chr11:47409400-47410600	Flanking Active TSS	HepG2	liver
15	chr11:47409400-47411200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:47409400-47411600	Enhancers	Esophagus	oesophagus
17	chr11:47409400-47414200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47409400-47414400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:47409400-47415000	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:47409600-47411000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:47409600-47411000	Enhancers	HMEC	breast
22	chr11:47409600-47411600	Enhancers	Placenta	Placenta
23	chr11:47409600-47412000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:47409600-47415800	Enhancers	Adipose Nuclei	Adipose
25	chr11:47409800-47410600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:47409800-47411000	Enhancers	Primary B cells from cord blood	blood
27	chr11:47409800-47411200	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:47409800-47417600	Enhancers	Fetal Muscle Leg	muscle
29	chr11:47410000-47410600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:47410000-47410800	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:47410000-47410800	Enhancers	Gastric	stomach
32	chr11:47410000-47411000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:47410000-47411000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:47410000-47411200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:47410000-47411400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:47410000-47412200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:47410000-47412600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:47410000-47416800	Weak transcription	Brain Substantia Nigra	brain
39	chr11:47410200-47410600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:47410200-47410600	Flanking Active TSS	NHEK	skin
41	chr11:47410200-47411000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:47410200-47411000	Weak transcription	Fetal Thymus	thymus
43	chr11:47410200-47412800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:47410200-47421200	Weak transcription	Fetal Intestine Small	intestine
45	chr11:47410400-47410600	Enhancers	Stomach Mucosa	stomach
46	chr11:47410400-47411000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:47410400-47412000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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