Variant report

Variant	rs551479711
Chromosome Location	chr8:104152551-104152552
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	POLR2A	chr8:104152297-104152718	U87	brain:	n/a	n/a
2	ZNF143	chr8:104152381-104152735	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:104151974-104153028	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:

Variant related genes	Relation type
BAALC	TF binding region
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3327360	chr8:104152001-104154549	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104146800-104152600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:104149000-104153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:104150000-104152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:104150200-104152600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:104150600-104152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:104150800-104153000	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:104151000-104152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:104151000-104152600	Weak transcription	Ovary	ovary
10	chr8:104151400-104153000	Enhancers	Primary B cells from cord blood	blood
11	chr8:104151600-104152600	Weak transcription	Right Atrium	heart
12	chr8:104151800-104152600	Active TSS	Primary hematopoietic stem cells	blood
13	chr8:104152000-104152600	Enhancers	Spleen	Spleen
14	chr8:104152000-104153000	Enhancers	Fetal Brain Male	brain
15	chr8:104152200-104152600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:104152200-104152600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr8:104152200-104152600	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr8:104152200-104152600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:104152200-104152600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:104152200-104152800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:104152200-104152800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:104152200-104152800	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr8:104152200-104152800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr8:104152200-104152800	Enhancers	Pancreas	Pancrea
25	chr8:104152200-104153000	Bivalent Enhancer	Esophagus	oesophagus
26	chr8:104152200-104153000	Enhancers	Gastric	stomach
27	chr8:104152200-104153800	Active TSS	Fetal Brain Female	brain
28	chr8:104152200-104154000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr8:104152200-104154000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:104152200-104154000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr8:104152200-104154200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:104152200-104155600	Active TSS	Brain Substantia Nigra	brain
33	chr8:104152400-104152600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr8:104152400-104152600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:104152400-104152600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:104152400-104152600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:104152400-104152600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:104152400-104152600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:104152400-104152600	Bivalent Enhancer	Colon Smooth Muscle	Colon
40	chr8:104152400-104152600	Bivalent Enhancer	Fetal Stomach	stomach
41	chr8:104152400-104152600	Active TSS	Right Ventricle	heart
42	chr8:104152400-104152600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
43	chr8:104152400-104152600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr8:104152400-104152600	Bivalent Enhancer	NHLF	lung
45	chr8:104152400-104152600	Flanking Bivalent TSS/Enh	Osteobl	bone
46	chr8:104152400-104152800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:104152400-104152800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:104152400-104152800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:104152400-104152800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:104152400-104152800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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