Variant report

Variant	rs372042322
Chromosome Location	chr11:71853595-71853596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71817497..71819718-chr11:71852568..71855106,2	MCF-7	breast:
2	chr11:71821717..71826052-chr11:71851780..71856774,7	MCF-7	breast:
3	chr11:71822348..71825348-chr11:71852319..71854832,3	MCF-7	breast:
4	chr11:71850218..71852679-chr11:71853502..71855781,2	MCF-7	breast:
5	chr11:71853234..71854961-chr11:71893001..71894509,2	MCF-7	breast:
6	chr11:71853125..71854944-chr11:71891324..71892926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110203	Chromatin interaction
ENSG00000110200	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1054858	chr11:71847797-71880291	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3493111	chr11:71850822-71893073	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3493112	chr11:71850822-71893073	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv435918	chr11:71851427-71890983	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv5948	chr11:71851479-71890582	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3359634	chr11:71851533-71892403	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2513904	chr11:71852934-71892793	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71848400-71854600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:71849800-71853600	Genic enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:71850800-71853600	Enhancers	Hela-S3	cervix
4	chr11:71850800-71856200	Enhancers	HMEC	breast
5	chr11:71851200-71856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:71852200-71854800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:71852600-71853800	Enhancers	Fetal Thymus	thymus
8	chr11:71852600-71854400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:71852800-71853600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:71852800-71853600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:71852800-71853600	Enhancers	HSMM	muscle
12	chr11:71852800-71855000	Weak transcription	A549	lung
13	chr11:71853000-71853600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:71853000-71854400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:71853000-71854400	Enhancers	NHEK	skin
16	chr11:71853000-71856200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:71853200-71854200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:71853200-71854400	Weak transcription	Placenta	Placenta
19	chr11:71853200-71854800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:71853200-71855400	Weak transcription	NHLF	lung
21	chr11:71853400-71853600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:71853400-71853800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:71853400-71854400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:71853400-71854400	Weak transcription	Osteobl	bone
25	chr11:71853400-71854800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:71853400-71854800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:71853400-71854800	Weak transcription	NHDF-Ad	bronchial
28	chr11:71853400-71855000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:71853400-71855200	Weak transcription	NH-A	brain
30	chr11:71853400-71855400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:71853400-71856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:71853400-71856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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