Variant report

Variant	rs12289046
Chromosome Location	chr11:34227527-34227528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34217700..34219996-chr11:34226707..34229701,2	K562	blood:
2	chr11:34213263..34215421-chr11:34226827..34229428,2	MCF-7	breast:
3	chr11:34225108..34229701-chr11:34377567..34379685,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12295338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56842608	1.00[AMR][1000 genomes]
rs9971554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971555	0.89[AFR][1000 genomes];1.00[AMR][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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
2	chr11:34208200-34235200	Weak transcription	Adipose Nuclei	Adipose
3	chr11:34214600-34228000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:34215000-34228200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:34215000-34228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:34215200-34228200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:34215600-34228200	Weak transcription	Right Atrium	heart
9	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
10	chr11:34216000-34228200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:34216600-34228400	Weak transcription	Lung	lung
12	chr11:34218800-34228200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:34218800-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:34219000-34228000	Weak transcription	Fetal Intestine Small	intestine
15	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
16	chr11:34219200-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:34223400-34227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:34223400-34228000	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:34223800-34228000	Weak transcription	Fetal Lung	lung
20	chr11:34224600-34228200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:34224600-34229200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:34224800-34228400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:34224800-34228800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:34224800-34230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:34225000-34228000	Weak transcription	HSMMtube	muscle
26	chr11:34225200-34228200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:34225200-34228200	Enhancers	HepG2	liver
28	chr11:34225400-34228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:34225400-34230000	Weak transcription	Right Ventricle	heart
30	chr11:34225600-34227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:34225600-34227800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:34225600-34227800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:34225600-34228000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:34225600-34228000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:34225600-34228000	Weak transcription	Ovary	ovary
36	chr11:34225600-34228200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:34225600-34228200	Weak transcription	GM12878-XiMat	blood
38	chr11:34225800-34228200	Weak transcription	Thymus	Thymus
39	chr11:34225800-34228600	Enhancers	Stomach Mucosa	stomach
40	chr11:34225800-34235000	Weak transcription	Liver	Liver
41	chr11:34226000-34228200	Weak transcription	Placenta	Placenta
42	chr11:34226000-34228800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:34226000-34229400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:34226200-34227600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:34226200-34227600	Weak transcription	Fetal Stomach	stomach
46	chr11:34226200-34228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:34226200-34228000	Weak transcription	Fetal Thymus	thymus
48	chr11:34226200-34228200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:34226200-34228200	Weak transcription	Aorta	Aorta
50	chr11:34226200-34236600	Weak transcription	Gastric	stomach

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