Variant report

Variant	rs12793219
Chromosome Location	chr11:76574910-76574911
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76569198..76571423-chr11:76574828..76576546,2	K562	blood:
2	chr11:76573371..76575582-chr11:76628469..76631182,2	MCF-7	breast:
3	chr11:76573736..76576142-chr11:76577044..76578811,2	K562	blood:
4	chr11:76572318..76575156-chr11:76600227..76602502,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10899309	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11236978	0.94[EUR][1000 genomes]
rs11236995	0.98[EUR][1000 genomes]
rs11236998	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11237001	0.98[EUR][1000 genomes]
rs11237005	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11237012	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11237046	1.00[CEU][hapmap]
rs12785994	0.88[CEU][hapmap]
rs12790535	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12791998	1.00[CEU][hapmap]
rs12792209	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12792893	0.95[EUR][1000 genomes]
rs12795242	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12797385	0.83[EUR][1000 genomes]
rs12797610	1.00[CEU][hapmap]
rs12806029	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs34683571	0.95[EUR][1000 genomes]
rs7944465	0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76572600-76575200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:76572800-76579600	Weak transcription	Ovary	ovary
3	chr11:76572800-76596400	Weak transcription	Small Intestine	intestine
4	chr11:76573000-76575200	Enhancers	Primary B cells from cord blood	blood
5	chr11:76573000-76575200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:76573000-76578200	Weak transcription	Aorta	Aorta
7	chr11:76573000-76578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:76573000-76579200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:76573000-76579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:76573000-76579600	Weak transcription	Lung	lung
11	chr11:76573000-76579800	Weak transcription	Gastric	stomach
12	chr11:76573000-76581800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:76573000-76582000	Weak transcription	HSMM	muscle
14	chr11:76573000-76582200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:76573000-76583000	Weak transcription	Fetal Stomach	stomach
16	chr11:76573000-76583600	Weak transcription	Esophagus	oesophagus
17	chr11:76573200-76575000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:76573200-76575400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:76573200-76575800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:76573200-76577800	Weak transcription	Fetal Kidney	kidney
21	chr11:76573200-76578200	Weak transcription	Spleen	Spleen
22	chr11:76573200-76579400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:76573200-76580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:76573200-76581400	Weak transcription	Fetal Brain Male	brain
25	chr11:76573200-76581800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:76573200-76582000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:76573200-76583000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:76573200-76583200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:76573200-76583600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:76573200-76591600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:76573200-76596600	Weak transcription	Right Ventricle	heart
32	chr11:76573200-76600400	Weak transcription	Primary T cells from cord blood	blood
33	chr11:76573200-76601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:76573400-76575400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:76573400-76575400	Enhancers	Adipose Nuclei	Adipose
36	chr11:76573400-76575400	Enhancers	Brain Substantia Nigra	brain
37	chr11:76573400-76579000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:76573400-76579000	Weak transcription	Fetal Brain Female	brain
39	chr11:76573400-76579400	Weak transcription	Fetal Heart	heart
40	chr11:76573400-76579600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:76573400-76579600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:76573400-76579600	Weak transcription	Brain Germinal Matrix	brain
43	chr11:76573400-76579600	Weak transcription	Colonic Mucosa	Colon
44	chr11:76573400-76579600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:76573400-76581200	Weak transcription	Fetal Lung	lung
46	chr11:76573400-76581400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:76573400-76582200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:76573400-76582200	Weak transcription	Liver	Liver
49	chr11:76573400-76582600	Weak transcription	Fetal Intestine Large	intestine
50	chr11:76573400-76591400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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