Variant report

Variant	rs11054817
Chromosome Location	chr12:12485599-12485600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12419232..12421863-chr12:12485161..12488276,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11054824	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11054827	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11054832	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11054839	1.00[AMR][1000 genomes]
rs12578158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580693	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2417091	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35626354	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4328285	0.92[ASN][1000 genomes]
rs4763818	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56895024	1.00[AMR][1000 genomes]
rs6488514	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7295350	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898807	chr12:12448948-12502001	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
3	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
5	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
7	chr12:12473800-12502400	Weak transcription	NHLF	lung
8	chr12:12474000-12489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:12474200-12486600	Weak transcription	Brain Substantia Nigra	brain
10	chr12:12476000-12486400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:12477000-12487600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:12477200-12486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:12477200-12491800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:12480400-12487400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:12480400-12490800	Weak transcription	Right Atrium	heart
16	chr12:12480400-12502400	Weak transcription	Right Ventricle	heart
17	chr12:12480800-12486400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:12480800-12486600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:12481000-12486200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:12481000-12486400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:12481000-12486400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:12481000-12486400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:12481000-12486400	Weak transcription	Dnd41	blood
24	chr12:12481000-12486400	Weak transcription	GM12878-XiMat	blood
25	chr12:12481000-12486600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:12481000-12487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:12481200-12486400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:12481200-12486400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:12481200-12486600	Weak transcription	HepG2	liver
30	chr12:12481200-12487400	Weak transcription	A549	lung
31	chr12:12481200-12491000	Weak transcription	Hela-S3	cervix
32	chr12:12481200-12495400	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:12481200-12502200	Weak transcription	Fetal Heart	heart
34	chr12:12481800-12486200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:12481800-12502400	Weak transcription	Psoas Muscle	Psoas
36	chr12:12482400-12502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:12483600-12486200	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:12483600-12486200	Weak transcription	Fetal Stomach	stomach
39	chr12:12483600-12486400	Weak transcription	Aorta	Aorta
40	chr12:12483600-12486400	Weak transcription	Ovary	ovary
41	chr12:12483600-12487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:12483600-12487400	Weak transcription	Adipose Nuclei	Adipose
43	chr12:12483600-12487600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:12483600-12487600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:12483600-12488400	Enhancers	Stomach Mucosa	stomach
46	chr12:12483600-12502800	Weak transcription	Spleen	Spleen
47	chr12:12483800-12486200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:12484000-12486200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:12484200-12485600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:12484200-12486400	Weak transcription	Liver	Liver

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