Variant report

Variant	rs496346
Chromosome Location	chr11:63470250-63470251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63466032..63467553-chr11:63469435..63472239,2	K562	blood:
2	chr11:63447360..63451086-chr11:63465543..63470477,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271100	Chromatin interaction
ENSG00000133318	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1301131	1.00[AFR][1000 genomes]
rs2510524	1.00[AFR][1000 genomes]
rs2957251	1.00[AFR][1000 genomes]
rs2957254	1.00[AFR][1000 genomes]
rs2957256	0.87[AFR][1000 genomes]
rs2959888	0.86[AFR][1000 genomes]
rs480271	1.00[AFR][1000 genomes]
rs489327	0.86[AFR][1000 genomes]
rs489580	0.86[AFR][1000 genomes]
rs496354	0.86[AFR][1000 genomes]
rs501095	0.86[AFR][1000 genomes]
rs502017	1.00[AFR][1000 genomes]
rs502717	1.00[AFR][1000 genomes]
rs512073	0.86[AFR][1000 genomes]
rs516068	0.86[AFR][1000 genomes]
rs518304	1.00[AFR][1000 genomes]
rs518453	1.00[AFR][1000 genomes]
rs519374	1.00[AFR][1000 genomes]
rs520640	1.00[AFR][1000 genomes]
rs528770	1.00[AFR][1000 genomes]
rs533130	1.00[AFR][1000 genomes]
rs538627	1.00[AFR][1000 genomes]
rs540034	1.00[AFR][1000 genomes]
rs542124	1.00[AFR][1000 genomes]
rs554661	1.00[AFR][1000 genomes]
rs560610	0.86[AFR][1000 genomes]
rs569657	1.00[AFR][1000 genomes]
rs573083	0.87[AFR][1000 genomes]
rs622400	1.00[AFR][1000 genomes]
rs653841	0.86[AFR][1000 genomes]
rs694024	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897628	chr11:63456478-63508334	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:63451200-63475000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:63451200-63478000	Weak transcription	HSMM	muscle
4	chr11:63451200-63486400	Weak transcription	Primary T cells from cord blood	blood
5	chr11:63451400-63478000	Weak transcription	HSMMtube	muscle
6	chr11:63452000-63486400	Weak transcription	Fetal Thymus	thymus
7	chr11:63453000-63472800	Weak transcription	Pancreas	Pancrea
8	chr11:63453400-63471800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:63454800-63476600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:63455600-63472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:63455600-63476200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:63455800-63471800	Weak transcription	Osteobl	bone
13	chr11:63456800-63490000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:63457000-63476400	Weak transcription	A549	lung
15	chr11:63457000-63482600	Weak transcription	HepG2	liver
16	chr11:63457200-63472000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:63457600-63472600	Weak transcription	Esophagus	oesophagus
18	chr11:63458400-63471800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63459600-63516600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:63463200-63475600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:63463200-63482000	Weak transcription	Dnd41	blood
22	chr11:63463200-63516200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:63464200-63489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:63466200-63490000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:63466400-63471800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:63466800-63486800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:63467000-63472200	Weak transcription	NHDF-Ad	bronchial
28	chr11:63467000-63472600	Weak transcription	Lung	lung
29	chr11:63467000-63478000	Weak transcription	Right Atrium	heart
30	chr11:63467200-63481600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:63467400-63472000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:63467400-63472600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:63467400-63476400	Weak transcription	NHEK	skin
34	chr11:63467400-63477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:63467400-63478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:63467400-63481400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:63467400-63486600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:63467400-63497200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:63467600-63471600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:63467600-63471800	Weak transcription	Brain Angular Gyrus	brain
41	chr11:63467600-63471800	Weak transcription	Brain Anterior Caudate	brain
42	chr11:63467600-63471800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:63467600-63471800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:63467600-63472000	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:63467600-63472200	Weak transcription	Right Ventricle	heart
46	chr11:63467600-63472400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:63467600-63472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:63467600-63472400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:63467600-63472800	Weak transcription	Brain Germinal Matrix	brain
50	chr11:63467600-63475600	Weak transcription	Primary hematopoietic stem cells	blood

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