Variant report

Variant	rs543125642
Chromosome Location	chr8:62381367-62381368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62381011..62381982-chr8:62475541..62476206,2	MCF-7	breast:
2	chr8:62156342..62157143-chr8:62381140..62382022,5	K562	blood:
3	chr8:62156322..62157217-chr8:62381101..62382114,8	MCF-7	breast:
4	chr8:62248249..62249123-chr8:62380724..62381961,7	MCF-7	breast:
5	chr8:62051294..62051870-chr8:62381197..62381952,2	MCF-7	breast:
6	chr8:62051677..62052206-chr8:62381213..62382143,4	K562	blood:
7	chr8:61573180..61573719-chr8:62381054..62381598,2	K562	blood:

Variant related genes	Relation type
ENSG00000255289	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv14468	chr8:62380573-62387328	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1007319	chr8:62380595-62387193	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv997484	chr8:62380717-62387328	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62366800-62383200	Weak transcription	Brain Anterior Caudate	brain
2	chr8:62367400-62381600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:62370600-62386600	Weak transcription	Fetal Brain Male	brain
4	chr8:62375600-62383000	Weak transcription	Fetal Brain Female	brain
5	chr8:62380200-62381400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:62380200-62381400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:62380200-62381400	Weak transcription	Liver	Liver
8	chr8:62380200-62381400	Weak transcription	NHEK	skin
9	chr8:62380800-62381400	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:62380800-62381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:62380800-62381600	Enhancers	K562	blood
12	chr8:62381000-62381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:62381200-62381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:62381200-62381400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:62381200-62381400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:62381200-62381400	Enhancers	Adipose Nuclei	Adipose
17	chr8:62381200-62381600	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:62381200-62381600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:62381200-62381600	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:62381200-62382600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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