Variant report

Variant	rs72801293
Chromosome Location	chr5:112349553-112349554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112349384..112350972-chr5:112360644..112363312,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv964923	chr5:112349068-112350764	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112314200-112349600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:112314200-112356800	Weak transcription	Stomach Mucosa	stomach
3	chr5:112314200-112362600	Weak transcription	Colonic Mucosa	Colon
4	chr5:112315600-112362600	Weak transcription	Brain Angular Gyrus	brain
5	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:112319800-112363800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:112320000-112364200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:112320600-112362600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:112321200-112364800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:112321400-112363800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr5:112321600-112353800	Weak transcription	Fetal Heart	heart
13	chr5:112322600-112362400	Weak transcription	Psoas Muscle	Psoas
14	chr5:112322800-112362400	Weak transcription	Esophagus	oesophagus
15	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:112327800-112364600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:112329400-112356800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:112330200-112362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112332400-112352400	Strong transcription	Dnd41	blood
20	chr5:112332400-112355800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
22	chr5:112332800-112352200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:112333000-112359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:112333200-112362400	Weak transcription	Right Ventricle	heart
25	chr5:112334000-112365200	Strong transcription	Placenta	Placenta
26	chr5:112334200-112350400	Strong transcription	Fetal Intestine Large	intestine
27	chr5:112334200-112350400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr5:112334200-112352600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:112334800-112352200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:112335600-112350200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:112335600-112353200	Strong transcription	Fetal Thymus	thymus
32	chr5:112335800-112350600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr5:112335800-112351000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:112336400-112350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:112336400-112350800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:112338600-112360800	Weak transcription	Aorta	Aorta
37	chr5:112339200-112362400	Weak transcription	Pancreas	Pancrea
38	chr5:112339400-112356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:112339400-112362000	Weak transcription	Gastric	stomach
40	chr5:112339800-112349600	Weak transcription	Spleen	Spleen
41	chr5:112339800-112349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:112340400-112362400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:112340400-112362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:112340400-112362600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:112340600-112349600	Weak transcription	HMEC	breast
46	chr5:112341600-112357600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:112341800-112352600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:112342000-112352600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:112342200-112362600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:112342800-112351000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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