Variant report

Variant	rs530439901
Chromosome Location	chr8:8523362-8523363
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8521708..8523657-chr8:8525463..8527209,2	MCF-7	breast:
2	chr8:8455617..8458254-chr8:8522777..8525195,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv610180	chr8:8501230-8543324	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv890337	chr8:8517919-8542718	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1033340	chr8:8522963-8565946	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv539458	chr8:8522963-8565946	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8514200-8527000	Weak transcription	Fetal Kidney	kidney
2	chr8:8521000-8524800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:8521000-8525000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:8521600-8523600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:8521600-8523600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:8521600-8524600	Enhancers	Fetal Brain Male	brain
7	chr8:8521600-8525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:8521800-8523400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:8521800-8523400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:8521800-8523600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:8522000-8523400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:8522000-8523600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:8522000-8523800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:8522000-8523800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:8522000-8524000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:8522200-8523400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:8522200-8523400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:8522200-8523400	Flanking Active TSS	NH-A	brain
19	chr8:8522200-8523600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:8522200-8527000	Weak transcription	HepG2	liver
21	chr8:8522400-8523400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:8522400-8523400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:8522400-8523600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:8522400-8525600	Weak transcription	Fetal Lung	lung
25	chr8:8522600-8527400	Enhancers	A549	lung
26	chr8:8522800-8523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:8522800-8524600	Weak transcription	Right Atrium	heart
28	chr8:8522800-8524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:8522800-8524800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:8522800-8527000	Weak transcription	Hela-S3	cervix
31	chr8:8522800-8527200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:8522800-8528400	Weak transcription	NHLF	lung
33	chr8:8523000-8523400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:8523000-8523400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr8:8523000-8523400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr8:8523000-8523400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr8:8523000-8523400	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr8:8523000-8523600	Flanking Active TSS	HSMMtube	muscle
39	chr8:8523000-8523800	Enhancers	HMEC	breast
40	chr8:8523000-8527200	Weak transcription	Osteobl	bone
41	chr8:8523200-8523400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:8523200-8523400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:8523200-8523400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr8:8523200-8523400	Bivalent Enhancer	Fetal Heart	heart
45	chr8:8523200-8523400	Enhancers	NHEK	skin
46	chr8:8523200-8523600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:8523200-8523600	Enhancers	Brain Angular Gyrus	brain
48	chr8:8523200-8523600	Enhancers	Brain Anterior Caudate	brain
49	chr8:8523200-8523600	Flanking Active TSS	Fetal Brain Female	brain
50	chr8:8523200-8523800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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