Variant report

Variant	rs12283943
Chromosome Location	chr11:56981664-56981665
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10160780	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11228934	0.84[AFR][1000 genomes]
rs11228956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12271407	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12274316	1.00[YRI][hapmap]
rs12285798	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12295604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56977000-56983000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:56979000-56984400	Weak transcription	Spleen	Spleen
3	chr11:56979600-56984000	Enhancers	Fetal Brain Male	brain
4	chr11:56979800-56982200	Enhancers	Fetal Lung	lung
5	chr11:56980200-56982200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:56980200-56982600	Enhancers	Fetal Stomach	stomach
7	chr11:56980400-56982200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:56980400-56982400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:56980400-56982600	Enhancers	Fetal Muscle Leg	muscle
10	chr11:56980600-56981800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:56980600-56982000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:56980600-56982000	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr11:56980600-56982000	Enhancers	Lung	lung
14	chr11:56980600-56982000	Enhancers	Right Ventricle	heart
15	chr11:56980600-56982200	Enhancers	Brain Anterior Caudate	brain
16	chr11:56980600-56982600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:56980600-56982600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:56980600-56982600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:56980600-56982600	Enhancers	NHDF-Ad	bronchial
20	chr11:56980600-56983200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:56980800-56981800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:56980800-56981800	Enhancers	HSMM	muscle
23	chr11:56980800-56982000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:56980800-56982000	Enhancers	Fetal Kidney	kidney
25	chr11:56980800-56982000	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:56980800-56982400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:56980800-56982400	Enhancers	Placenta	Placenta
28	chr11:56980800-56982600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:56981000-56981800	Weak transcription	Small Intestine	intestine
30	chr11:56981000-56982000	Enhancers	Brain Substantia Nigra	brain
31	chr11:56981000-56982000	Enhancers	Fetal Heart	heart
32	chr11:56981000-56982000	Enhancers	Left Ventricle	heart
33	chr11:56981000-56982200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:56981000-56982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:56981000-56982200	Enhancers	Right Atrium	heart
36	chr11:56981000-56982400	Enhancers	Stomach Mucosa	stomach
37	chr11:56981000-56982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:56981000-56982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:56981000-56982600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:56981000-56982600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:56981000-56982600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:56981000-56982600	Enhancers	Osteobl	bone
43	chr11:56981200-56982000	Enhancers	A549	lung
44	chr11:56981200-56982200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr11:56981200-56982200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:56981200-56982200	Flanking Active TSS	HSMMtube	muscle
47	chr11:56981200-56982400	Enhancers	Adipose Nuclei	Adipose
48	chr11:56981200-56982600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:56981200-56982600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:56981200-56982600	Flanking Active TSS	NH-A	brain

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