Variant report

Variant	rs544697493
Chromosome Location	chr2:11052137-11052138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10977377..10978983-chr2:11051588..11054422,2	MCF-7	breast:
2	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:

Variant related genes	Relation type
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv873662	chr2:11035430-11061156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3341963	chr2:11051501-11053499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
2	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
3	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
4	chr2:11051400-11052200	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
6	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
11	chr2:11051600-11052200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
13	chr2:11051600-11052200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:11051600-11052200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:11051600-11052200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr2:11051600-11052200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr2:11051600-11052200	Bivalent Enhancer	Spleen	Spleen
21	chr2:11051600-11052200	Active TSS	Hela-S3	cervix
22	chr2:11051600-11052600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr2:11051600-11052600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:11051600-11052600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:11051600-11052800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:11051600-11052800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:11051600-11052800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:11051600-11052800	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr2:11051600-11052800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
30	chr2:11051600-11052800	Bivalent/Poised TSS	HSMM	muscle
31	chr2:11051600-11052800	Bivalent/Poised TSS	NH-A	brain
32	chr2:11051600-11053000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:11051600-11053000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:11051600-11053600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr2:11051600-11054600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
37	chr2:11051800-11052200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:11051800-11052200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:11051800-11052200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:11051800-11052200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:11051800-11052200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:11051800-11052200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr2:11051800-11052200	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr2:11051800-11052200	Flanking Active TSS	Pancreas	Pancrea
45	chr2:11051800-11052200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr2:11051800-11052200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
47	chr2:11051800-11052200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr2:11051800-11052200	Flanking Bivalent TSS/Enh	HMEC	breast
49	chr2:11051800-11052200	Bivalent/Poised TSS	Osteobl	bone
50	chr2:11051800-11052400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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