Variant report

Variant	rs531158805
Chromosome Location	chr11:45674983-45674984
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	chr11:45673703..45676177-chr11:45681263..45683293,2	K562	blood:
2	chr11:45673604..45675879-chr11:45677397..45678906,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv554197	chr11:45673014-45679212	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv554198	chr11:45674266-45684117	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45665600-45680000	Weak transcription	Gastric	stomach
2	chr11:45669800-45676400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:45669800-45676400	Weak transcription	HUVEC	blood vessel
4	chr11:45669800-45676600	Weak transcription	Left Ventricle	heart
5	chr11:45670000-45680200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:45670600-45675400	Strong transcription	Dnd41	blood
7	chr11:45670600-45676600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:45671200-45676200	Weak transcription	Fetal Brain Male	brain
9	chr11:45672600-45675200	Weak transcription	Aorta	Aorta
10	chr11:45672600-45675800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:45672600-45676400	Weak transcription	Right Ventricle	heart
12	chr11:45673200-45675400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:45673200-45677000	Weak transcription	Ovary	ovary
14	chr11:45673400-45675800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:45673400-45677000	Weak transcription	Lung	lung
16	chr11:45673600-45676000	Weak transcription	Brain Germinal Matrix	brain
17	chr11:45673600-45677200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:45673800-45675000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:45673800-45676600	Weak transcription	Fetal Brain Female	brain
20	chr11:45673800-45677400	Enhancers	Fetal Muscle Leg	muscle
21	chr11:45674000-45675000	Enhancers	NHEK	skin
22	chr11:45674000-45675000	Enhancers	Osteobl	bone
23	chr11:45674000-45675600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:45674000-45677200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:45674200-45676000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:45674200-45677000	Enhancers	Fetal Stomach	stomach
27	chr11:45674200-45679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:45674400-45676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:45674400-45676400	Weak transcription	Spleen	Spleen
30	chr11:45674400-45677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:45674600-45675200	Enhancers	Brain Substantia Nigra	brain
32	chr11:45674600-45675600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:45674600-45676600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:45674600-45677000	Weak transcription	HMEC	breast
35	chr11:45674600-45679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:45674800-45675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:45674800-45676200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:45674800-45676400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:45674800-45676400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:45674800-45676800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:45674800-45676800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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