Variant report

Variant	rs554654878
Chromosome Location	chr5:80503575-80503576
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	chr21:43236982..43237531-chr5:80503397..80503897,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80464200-80528400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:80465200-80528200	Weak transcription	Ovary	ovary
3	chr5:80466000-80512600	Weak transcription	Gastric	stomach
4	chr5:80485200-80516200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:80491000-80505600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:80491000-80508600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:80491000-80520200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:80491000-80528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:80491200-80504600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:80491200-80505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:80491200-80530000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:80491400-80505400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:80491400-80528400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:80491600-80505400	Weak transcription	NHLF	lung
15	chr5:80491600-80505800	Weak transcription	Brain Angular Gyrus	brain
16	chr5:80491800-80504800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:80491800-80505000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:80492000-80510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:80492000-80528600	Weak transcription	Left Ventricle	heart
20	chr5:80496400-80511000	Strong transcription	Primary T cells from cord blood	blood
21	chr5:80496600-80513200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:80497000-80517000	Weak transcription	Right Atrium	heart
23	chr5:80498000-80528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:80498200-80504800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:80498800-80530000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr5:80499800-80505200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr5:80499800-80505800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:80500000-80507200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:80501000-80508800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:80501400-80505000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:80502000-80511400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:80502200-80503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:80502200-80506000	Strong transcription	HepG2	liver
34	chr5:80502400-80510600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:80502600-80503800	Strong transcription	Brain Hippocampus Middle	brain
36	chr5:80502600-80508600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:80502800-80503800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:80503200-80506000	Strong transcription	Adipose Nuclei	Adipose
39	chr5:80503200-80506600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:80503400-80503800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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