Variant report

Variant	rs12284927
Chromosome Location	chr11:94468477-94468478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94467486..94469825-chr11:94473551..94475273,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12279037	0.92[AFR][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	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94458600-94473200	Weak transcription	Esophagus	oesophagus
2	chr11:94461400-94473200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:94461400-94473400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:94462000-94470600	Genic enhancers	NHEK	skin
5	chr11:94462400-94469600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:94463600-94468600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:94464800-94469000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:94464800-94469200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:94464800-94469200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:94465000-94468600	Enhancers	HUVEC	blood vessel
11	chr11:94465200-94472800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:94465600-94473400	Weak transcription	Right Atrium	heart
13	chr11:94465800-94468600	Enhancers	A549	lung
14	chr11:94465800-94470200	Weak transcription	HSMM	muscle
15	chr11:94465800-94470200	Weak transcription	HSMMtube	muscle
16	chr11:94465800-94473000	Enhancers	Hela-S3	cervix
17	chr11:94466000-94468600	Enhancers	K562	blood
18	chr11:94466000-94469800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:94466000-94470200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:94466000-94470200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:94466200-94470200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:94466200-94470400	Weak transcription	NHDF-Ad	bronchial
23	chr11:94466200-94470800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:94466200-94472200	Weak transcription	Fetal Stomach	stomach
25	chr11:94466400-94468600	Genic enhancers	HMEC	breast
26	chr11:94466400-94470200	Weak transcription	NHLF	lung
27	chr11:94466400-94470600	Weak transcription	Osteobl	bone
28	chr11:94466600-94469400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:94466600-94473200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:94466800-94469800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:94466800-94469800	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:94467000-94468800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:94467200-94471000	Enhancers	Fetal Intestine Small	intestine
34	chr11:94467200-94471400	Enhancers	Fetal Intestine Large	intestine
35	chr11:94467400-94468600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:94467400-94468600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:94467600-94468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:94467600-94468600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr11:94467600-94468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:94467600-94468600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:94467600-94468600	Enhancers	Fetal Thymus	thymus
42	chr11:94467600-94469800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:94467600-94473200	Enhancers	Placenta	Placenta
44	chr11:94467800-94468600	Enhancers	Fetal Muscle Leg	muscle
45	chr11:94467800-94469400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:94468000-94468600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:94468000-94468600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:94468000-94468600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:94468000-94469200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:94468000-94469800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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