Variant report

Variant	rs545293767
Chromosome Location	chr2:11470087-11470088
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	chr2:11468962..11471644-chr2:11473176..11474699,2	MCF-7	breast:
2	chr2:11467535..11471011-chr2:11482918..11485202,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	esv3423850	chr2:11469926-11472474	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11470200	Weak transcription	NHLF	lung
5	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:11467400-11470400	Weak transcription	K562	blood
7	chr2:11467400-11472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:11467600-11470400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:11467600-11471400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:11467600-11472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:11467800-11470400	Weak transcription	Right Atrium	heart
14	chr2:11467800-11470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:11467800-11470800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:11467800-11471400	Weak transcription	Right Ventricle	heart
17	chr2:11467800-11471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:11468000-11470400	Weak transcription	Ovary	ovary
21	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
22	chr2:11468200-11470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
24	chr2:11469200-11470400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:11469200-11470400	Enhancers	NHDF-Ad	bronchial
26	chr2:11469400-11470200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:11469400-11470200	Enhancers	HepG2	liver
28	chr2:11469400-11470400	Enhancers	Colon Smooth Muscle	Colon
29	chr2:11469400-11470600	Enhancers	Osteobl	bone
30	chr2:11469400-11470800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:11469400-11470800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:11469400-11470800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:11469400-11471000	Enhancers	HSMM	muscle
34	chr2:11469600-11470400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:11469600-11470400	Enhancers	A549	lung
36	chr2:11469600-11470600	Enhancers	Liver	Liver
37	chr2:11469600-11470600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:11469800-11470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:11469800-11470200	Enhancers	Fetal Brain Male	brain
40	chr2:11469800-11470200	Enhancers	Fetal Lung	lung
41	chr2:11469800-11470400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:11469800-11470400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:11469800-11470400	Enhancers	Fetal Heart	heart
44	chr2:11469800-11470600	Enhancers	NHEK	skin
45	chr2:11469800-11470800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:11469800-11470800	Enhancers	Hela-S3	cervix
47	chr2:11470000-11470200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:11470000-11470200	Enhancers	GM12878-XiMat	blood
49	chr2:11470000-11470400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:11470000-11470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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