Variant report

Variant	rs542909126
Chromosome Location	chr2:11471606-11471607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11468962..11471644-chr2:11473176..11474699,2	MCF-7	breast:
2	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:
3	chr2:11470381..11472827-chr2:11486435..11488434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3393674	chr2:11470501-11471699	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

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	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11472600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:11467600-11472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:11467800-11473400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
12	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
13	chr2:11470200-11473800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:11470400-11472200	Weak transcription	Fetal Intestine Large	intestine
15	chr2:11470400-11472400	Weak transcription	A549	lung
16	chr2:11470400-11472600	Weak transcription	Fetal Heart	heart
17	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:11470600-11475200	Weak transcription	Osteobl	bone
20	chr2:11470800-11472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:11470800-11472600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:11470800-11473400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:11470800-11473400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:11470800-11473600	Weak transcription	K562	blood
25	chr2:11470800-11475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:11470800-11475200	Weak transcription	NHDF-Ad	bronchial
27	chr2:11470800-11475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:11470800-11481200	Weak transcription	Right Atrium	heart
29	chr2:11470800-11481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:11471000-11471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:11471000-11472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:11471000-11474800	Weak transcription	Ovary	ovary
33	chr2:11471000-11481200	Weak transcription	HSMM	muscle
34	chr2:11471200-11478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:11471200-11480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:11471400-11473000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:11471400-11475800	Enhancers	Liver	Liver
38	chr2:11471600-11477000	Enhancers	HepG2	liver

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