Variant report

Variant	rs72778637
Chromosome Location	chr5:100236019-100236020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100226559..100228152-chr5:100235251..100237203,2	MCF-7	breast:
2	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:
3	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
4	chr5:100160740..100162427-chr5:100234185..100236458,2	K562	blood:

Variant related genes	Relation type
ENSG00000113532	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	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882471	chr5:100234439-100362071	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3333403	chr5:100235653-100237701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100230800-100236400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
3	chr5:100234000-100236200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr5:100234400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:100235000-100236400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr5:100235000-100236400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:100235200-100236200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:100235400-100236200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr5:100235400-100236200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr5:100235400-100236200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr5:100235400-100236400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:100235400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:100235400-100237000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:100235400-100237400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
16	chr5:100235600-100236200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr5:100235600-100236200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr5:100235600-100236200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr5:100235600-100236200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr5:100235600-100236200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr5:100235600-100236200	Flanking Active TSS	Fetal Lung	lung
22	chr5:100235600-100236200	Flanking Active TSS	Osteobl	bone
23	chr5:100235600-100236400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr5:100235600-100236400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:100235600-100236400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:100235600-100236400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:100235600-100236400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:100235600-100236400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr5:100235600-100236400	Flanking Active TSS	Fetal Thymus	thymus
30	chr5:100235600-100236400	Flanking Active TSS	HUVEC	blood vessel
31	chr5:100235600-100236800	Active TSS	NHEK	skin
32	chr5:100235600-100237000	Active TSS	K562	blood
33	chr5:100235600-100237200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:100235600-100238800	Active TSS	Rectal Smooth Muscle	rectum
35	chr5:100235600-100239000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:100235600-100240400	Active TSS	Brain Angular Gyrus	brain
37	chr5:100235600-100240600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:100235600-100240600	Active TSS	Thymus	Thymus
39	chr5:100235800-100236200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:100235800-100236200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:100235800-100236200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:100235800-100236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:100235800-100236200	Flanking Active TSS	Fetal Brain Male	brain
44	chr5:100235800-100236200	Active TSS	Fetal Muscle Trunk	muscle
45	chr5:100235800-100236200	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr5:100235800-100236200	Active TSS	Left Ventricle	heart
47	chr5:100235800-100236200	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:100235800-100236200	Enhancers	Spleen	Spleen
49	chr5:100235800-100236400	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr5:100235800-100236400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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