Variant report

Variant	rs12807301
Chromosome Location	chr11:56984932-56984933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58869267	1.00[ASN][1000 genomes]
rs67356048	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72921963	1.00[ASN][1000 genomes]
rs72921997	1.00[ASN][1000 genomes]
rs72923903	1.00[AFR][1000 genomes]
rs72923981	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56981600-56986000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr11:56981800-56986200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:56982000-56986200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:56982000-56986600	Weak transcription	Fetal Heart	heart
5	chr11:56982000-56989200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:56982200-56986200	Weak transcription	Right Atrium	heart
7	chr11:56982200-56986400	Weak transcription	Brain Anterior Caudate	brain
8	chr11:56982200-56986800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:56982400-56987000	Weak transcription	Placenta	Placenta
10	chr11:56982400-56988800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:56982600-56986400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:56982600-56986400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:56982600-56986400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:56982600-56986400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:56982600-56986400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:56982600-56986600	Weak transcription	Fetal Stomach	stomach
17	chr11:56982600-56986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:56982600-56986800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:56982600-56989600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:56982600-56991000	Weak transcription	Osteobl	bone
21	chr11:56982600-56991800	Weak transcription	NHDF-Ad	bronchial
22	chr11:56983000-56989600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:56983600-56985000	Enhancers	Adipose Nuclei	Adipose
24	chr11:56983800-56987200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:56984400-56985000	Enhancers	HUVEC	blood vessel
26	chr11:56984400-56985600	Enhancers	Spleen	Spleen
27	chr11:56984600-56985000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr11:56984600-56985000	Enhancers	Left Ventricle	heart
29	chr11:56984600-56985000	Enhancers	Lung	lung
30	chr11:56984600-56985000	Enhancers	Psoas Muscle	Psoas
31	chr11:56984600-56985000	Enhancers	Right Ventricle	heart
32	chr11:56984800-56988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:56984800-56991000	Weak transcription	HSMMtube	muscle
34	chr11:56984800-56991200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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