Variant report

Variant	rs12678176
Chromosome Location	chr8:104151269-104151270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:104150903-104151347	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104149297..104151496-chr8:104160491..104162824,2	MCF-7	breast:
2	chr8:104149065..104151675-chr8:104155454..104157651,2	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12375277	1.00[ASN][1000 genomes]
rs62527573	0.84[ASN][1000 genomes]
rs62527574	0.84[ASN][1000 genomes]
rs62527605	1.00[ASN][1000 genomes]
rs62527606	1.00[ASN][1000 genomes]
rs62527608	1.00[ASN][1000 genomes]
rs62527610	1.00[ASN][1000 genomes]
rs62527611	1.00[ASN][1000 genomes]
rs62527612	1.00[ASN][1000 genomes]
rs62527613	1.00[ASN][1000 genomes]
rs62527635	0.84[ASN][1000 genomes]
rs7009527	0.84[ASN][1000 genomes]
rs72671378	0.84[ASN][1000 genomes]

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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104146800-104152000	Weak transcription	Fetal Brain Male	brain
2	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:104148400-104152200	Enhancers	Brain Hippocampus Middle	brain
4	chr8:104149000-104151400	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:104149000-104153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:104149200-104151800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:104149200-104151800	Enhancers	Brain Substantia Nigra	brain
8	chr8:104149600-104152200	Enhancers	Brain Angular Gyrus	brain
9	chr8:104150000-104152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:104150200-104152200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:104150200-104152400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104150200-104152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:104150400-104151400	Enhancers	Spleen	Spleen
14	chr8:104150400-104151600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:104150400-104152200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:104150600-104151600	Enhancers	Lung	lung
17	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:104150800-104151400	Weak transcription	Right Atrium	heart
20	chr8:104150800-104152200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:104150800-104152200	Weak transcription	Pancreas	Pancrea
22	chr8:104150800-104152200	Weak transcription	Right Ventricle	heart
23	chr8:104150800-104153000	Enhancers	Primary B cells from peripheral blood	blood
24	chr8:104151000-104151400	Flanking Active TSS	GM12878-XiMat	blood
25	chr8:104151000-104151600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr8:104151000-104152200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:104151000-104152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:104151000-104152600	Weak transcription	Ovary	ovary
29	chr8:104151200-104151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:104151200-104151400	Enhancers	Fetal Thymus	thymus
31	chr8:104151200-104151600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr8:104151200-104151600	Bivalent Enhancer	Thymus	Thymus
33	chr8:104151200-104151800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr8:104151200-104152000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:104151200-104152200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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