Variant report

Variant	rs566123149
Chromosome Location	chr8:8580954-8580955
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	chr8:8579801..8581466-chr8:8590103..8593043,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv1016933	chr8:8432279-8624770	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1028237	chr8:8532992-8588470	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1022670	chr8:8561196-8613387	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv517023	chr8:8573508-8586016	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv1835302	chr8:8573508-8588829	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv1840781	chr8:8573508-8588829	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv2762724	chr8:8578794-8630642	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv1822105	chr8:8579400-8589411	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv1831442	chr8:8579400-8589411	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	esv1848283	chr8:8579400-8589411	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv1805380	chr8:8579400-8589725	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	esv1819621	chr8:8579400-8589725	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
25	esv1838398	chr8:8579641-8587589	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	esv1840665	chr8:8580453-8588829	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8580000-8581400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr8:8580200-8581000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr8:8580200-8581200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:8580200-8581400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:8580200-8581400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:8580200-8581600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:8580200-8581600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:8580400-8581000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:8580400-8581000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr8:8580400-8581000	Enhancers	Spleen	Spleen
11	chr8:8580400-8581200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:8580400-8581400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr8:8580400-8581400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:8580400-8581400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:8580600-8581000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:8580600-8581000	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr8:8580600-8581000	Bivalent Enhancer	Placenta	Placenta
18	chr8:8580600-8581000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr8:8580600-8581000	Active TSS	Right Atrium	heart
20	chr8:8580600-8581200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8580600-8581200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr8:8580600-8581200	Enhancers	Lung	lung
27	chr8:8580600-8581200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr8:8580600-8581400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr8:8580600-8581400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr8:8580600-8581400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:8580600-8581400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr8:8580600-8581400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr8:8580800-8581000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:8580800-8581000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8580800-8581000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:8580800-8581000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:8580800-8581000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:8580800-8581000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
44	chr8:8580800-8581000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:8580800-8581000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
46	chr8:8580800-8581000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
47	chr8:8580800-8581000	Bivalent Enhancer	Esophagus	oesophagus
48	chr8:8580800-8581000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr8:8580800-8581000	Active TSS	Gastric	stomach
50	chr8:8580800-8581000	Enhancers	Ovary	ovary

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