Variant report

Variant	rs544564003
Chromosome Location	chr5:79550980-79550981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
2	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
3	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
4	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:
5	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164300	Chromatin interaction
ENSG00000239159	Chromatin interaction
ENSG00000039319	Chromatin interaction
ENSG00000251675	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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3366910	chr5:79550846-79553244	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79547800-79551000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr5:79548400-79551000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:79548600-79551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:79548600-79551200	Flanking Active TSS	Liver	Liver
5	chr5:79548600-79551200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:79548800-79551000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
11	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:79549600-79551000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:79549600-79551000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr5:79549600-79551000	Flanking Active TSS	Thymus	Thymus
16	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:79549800-79551000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:79549800-79551200	Flanking Active TSS	Dnd41	blood
20	chr5:79549800-79551400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr5:79549800-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
25	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
26	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:79550000-79551000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:79550000-79551000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:79550000-79551000	Active TSS	Brain Germinal Matrix	brain
31	chr5:79550000-79551000	Flanking Active TSS	Fetal Heart	heart
32	chr5:79550000-79551000	Flanking Active TSS	Osteobl	bone
33	chr5:79550000-79551200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr5:79550000-79551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr5:79550000-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:79550200-79551000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:79550200-79551000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:79550200-79551000	Flanking Active TSS	Fetal Stomach	stomach
42	chr5:79550200-79551000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr5:79550200-79551000	Flanking Active TSS	NH-A	brain
44	chr5:79550200-79551200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:79550200-79551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:79550200-79552200	Active TSS	Primary T cells fromperipheralblood	blood
47	chr5:79550200-79552400	Active TSS	Brain Cingulate Gyrus	brain
48	chr5:79550200-79552600	Active TSS	Ovary	ovary
49	chr5:79550200-79553000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:79550200-79553000	Active TSS	Colonic Mucosa	Colon

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