Variant report

Variant	rs12275883
Chromosome Location	chr11:17742206-17742207
allele	A/C
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:2)

rs_ID	r²[population]
rs12272145	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12281821	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv825772	chr11:17723530-17783128	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1037585	chr11:17730586-17768346	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3351059	chr11:17739776-17744374	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17740200-17742600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr11:17740200-17743000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:17740200-17743200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr11:17740200-17743200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17740200-17743600	Bivalent Enhancer	Fetal Heart	heart
6	chr11:17740200-17743800	Bivalent Enhancer	Liver	Liver
7	chr11:17740400-17743200	Active TSS	Psoas Muscle	Psoas
8	chr11:17740400-17743400	Active TSS	HSMM	muscle
9	chr11:17740600-17743600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:17740600-17743800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:17740600-17743800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:17740600-17743800	Enhancers	Pancreas	Pancrea
13	chr11:17740600-17744400	Active TSS	HSMMtube	muscle
14	chr11:17740800-17743000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
15	chr11:17740800-17743200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:17740800-17743200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:17740800-17743600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:17741000-17742400	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr11:17741000-17742600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:17741000-17743600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr11:17741200-17742400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:17741200-17742600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr11:17741200-17742800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr11:17741200-17742800	Bivalent Enhancer	Lung	lung
25	chr11:17741200-17743800	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr11:17741400-17742800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:17741400-17743600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:17741600-17743000	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr11:17741800-17742400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:17741800-17742400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr11:17741800-17742600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:17741800-17743200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:17741800-17743400	Bivalent Enhancer	Spleen	Spleen
34	chr11:17741800-17743600	Bivalent/Poised TSS	A549	lung
35	chr11:17741800-17750200	Weak transcription	Right Atrium	heart
36	chr11:17742000-17742400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr11:17742000-17742400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr11:17742000-17742400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr11:17742000-17742400	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr11:17742000-17742400	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr11:17742000-17742400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:17742000-17742600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr11:17742000-17742600	Bivalent Enhancer	Brain Anterior Caudate	brain
44	chr11:17742000-17742600	Bivalent Enhancer	Right Ventricle	heart
45	chr11:17742000-17742800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:17742000-17742800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr11:17742000-17743000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr11:17742000-17743200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr11:17742000-17743200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr11:17742000-17743400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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