Variant report

Variant	rs12293847
Chromosome Location	chr11:33675636-33675637
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33674641..33678001-chr11:33680305..33683108,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11032334	1.00[EUR][1000 genomes]
rs11825295	1.00[EUR][1000 genomes]
rs12288810	1.00[AFR][1000 genomes];1.00[EUR][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	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33657800-33688400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:33665800-33691600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:33666800-33677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:33667600-33679400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:33668000-33676800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:33668000-33677400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:33668400-33682400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:33668800-33677000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:33668800-33685200	Weak transcription	HUVEC	blood vessel
10	chr11:33670800-33677400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:33671000-33676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:33672600-33677600	Weak transcription	Fetal Brain Female	brain
13	chr11:33673600-33679400	Weak transcription	HSMM	muscle
14	chr11:33673800-33683800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:33674000-33676800	Weak transcription	Esophagus	oesophagus
16	chr11:33674000-33678200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:33674000-33679800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:33674000-33681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:33674000-33684600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:33674000-33686000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:33674000-33689800	Weak transcription	NH-A	brain
22	chr11:33674000-33690800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:33674200-33690000	Weak transcription	Fetal Brain Male	brain
24	chr11:33674400-33677800	Weak transcription	Brain Anterior Caudate	brain
25	chr11:33674400-33690800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:33674400-33691400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:33674400-33691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:33674600-33676000	Weak transcription	GM12878-XiMat	blood
29	chr11:33674600-33676200	Weak transcription	Right Atrium	heart
30	chr11:33674600-33677200	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:33674600-33677400	Weak transcription	NHEK	skin
32	chr11:33674600-33690800	Weak transcription	Psoas Muscle	Psoas
33	chr11:33674800-33700000	Weak transcription	Brain Angular Gyrus	brain
34	chr11:33675000-33676000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:33675000-33677200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:33675000-33677200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:33675000-33677200	Weak transcription	HSMMtube	muscle
38	chr11:33675000-33681200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:33675400-33687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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