Variant report

Variant	rs530419910
Chromosome Location	chr20:23123965-23123966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23094758..23097530-chr20:23123211..23126141,2	K562	blood:
2	chr20:23123944..23126735-chr20:23131086..23132834,2	MCF-7	breast:
3	chr20:23122593..23125054-chr20:23330206..23333059,2	MCF-7	breast:
4	chr20:23122546..23124571-chr20:23180527..23183160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23119800-23128600	Weak transcription	Gastric	stomach
3	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
4	chr20:23121000-23128000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:23121200-23128800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr20:23121200-23128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:23121200-23130800	Enhancers	HSMM	muscle
9	chr20:23121600-23124000	Enhancers	HSMMtube	muscle
10	chr20:23121600-23127000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:23121600-23130800	Enhancers	NH-A	brain
12	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
13	chr20:23121800-23124200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr20:23121800-23124200	Enhancers	Spleen	Spleen
15	chr20:23121800-23125800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
18	chr20:23122000-23124200	Enhancers	GM12878-XiMat	blood
19	chr20:23122000-23125800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:23122000-23126400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:23122200-23124000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr20:23122200-23124000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:23122200-23124200	Enhancers	Fetal Thymus	thymus
24	chr20:23122200-23124400	Enhancers	Primary B cells from cord blood	blood
25	chr20:23122200-23124400	Enhancers	Primary hematopoietic stem cells	blood
26	chr20:23122400-23124000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:23122400-23124400	Enhancers	Primary T cells from cord blood	blood
28	chr20:23122400-23124600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr20:23122400-23124800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr20:23122400-23126400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:23122600-23125000	Enhancers	HMEC	breast
32	chr20:23122600-23126400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:23122600-23138000	Enhancers	NHLF	lung
34	chr20:23122800-23124000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr20:23122800-23124000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:23122800-23124200	Enhancers	Stomach Mucosa	stomach
37	chr20:23122800-23124600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr20:23122800-23125000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr20:23122800-23128800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:23122800-23130800	Enhancers	Osteobl	bone
41	chr20:23123000-23124000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:23123000-23124200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:23123000-23124600	Enhancers	Hela-S3	cervix
44	chr20:23123000-23130200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr20:23123200-23124400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:23123200-23127200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:23123400-23124000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:23123400-23124000	Enhancers	A549	lung
49	chr20:23123400-23124600	Weak transcription	Lung	lung
50	chr20:23123400-23124800	Weak transcription	Placenta	Placenta

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