Variant report

Variant	rs548973137
Chromosome Location	chr5:80849154-80849155
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	chr5:80848254..80852026-chr5:80853882..80857592,4	K562	blood:
2	chr5:80846060..80848703-chr5:80848977..80851148,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv462221	chr5:80834138-80883110	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv598751	chr5:80834138-80883110	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv525225	chr5:80849084-80883110	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
2	chr5:80820200-80851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
4	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung
5	chr5:80830000-80853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:80830800-80849600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:80830800-80850000	Weak transcription	Colon Smooth Muscle	Colon
8	chr5:80834000-80849600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:80834000-80851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:80834400-80867000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:80834800-80866400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:80834800-80870000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80835000-80852000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:80835200-80850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:80835200-80863000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:80835200-80872800	Weak transcription	Fetal Kidney	kidney
17	chr5:80835200-80875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80835600-80876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:80840800-80883400	Weak transcription	HSMM	muscle
20	chr5:80840800-80884600	Weak transcription	Ovary	ovary
21	chr5:80841600-80849200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:80844200-80884600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:80844600-80849600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:80845800-80862000	Weak transcription	Thymus	Thymus
25	chr5:80845800-80863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:80846000-80849600	Weak transcription	Primary B cells from cord blood	blood
27	chr5:80846200-80850600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:80846200-80880600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:80846600-80849400	Weak transcription	Primary T cells from cord blood	blood
30	chr5:80846600-80849400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:80846600-80860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:80846800-80851800	Weak transcription	Fetal Thymus	thymus
33	chr5:80848000-80856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:80848600-80849200	Enhancers	HMEC	breast
35	chr5:80848600-80850200	Enhancers	Stomach Mucosa	stomach
36	chr5:80848600-80850200	Flanking Active TSS	HUVEC	blood vessel
37	chr5:80848600-80851400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:80848800-80849400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:80848800-80849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:80848800-80849600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:80848800-80849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:80848800-80850000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:80848800-80850800	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:80849000-80849200	Enhancers	K562	blood
45	chr5:80849000-80849600	Weak transcription	Dnd41	blood
46	chr5:80849000-80849800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:80849000-80885600	Weak transcription	Left Ventricle	heart

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