Variant report

Variant	rs549816305
Chromosome Location	chr8:104132305-104132306
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	chr8:104132303-104132663	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:104132263-104132870	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:104132252-104133174	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr8:104132252-104132880	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:104132291-104132854	MCF10A-Er-Src	breast:	n/a	chr8:104132405-104132417 chr8:104132401-104132413 chr8:104132618-104132626 chr8:104132395-104132407
6	POLR2A	chr8:104131940-104132976	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:104132255-104133085	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104130679..104132364-chr8:104143004..104144519,2	MCF-7	breast:
2	chr8:104131678..104134497-chr8:104225293..104227549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250929	TF binding region
ENSG00000164929	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	nsv437077	chr8:104132165-104133226	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104119400-104134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:104122000-104134600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:104123600-104132600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:104127400-104133200	Weak transcription	HSMMtube	muscle
5	chr8:104128400-104132800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:104128600-104132600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:104128600-104133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:104128800-104132400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:104128800-104132400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:104128800-104132400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:104128800-104132600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:104128800-104132600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:104128800-104133200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:104128800-104134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:104129000-104133400	Weak transcription	Osteobl	bone
16	chr8:104130800-104133000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:104131000-104132800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:104131000-104135200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:104131200-104132400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:104131200-104132600	Enhancers	NH-A	brain
21	chr8:104131200-104134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:104131200-104134000	Enhancers	HMEC	breast
23	chr8:104131200-104136400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:104131600-104132600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr8:104131600-104133400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:104131800-104132800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:104131800-104133200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:104131800-104133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:104132000-104132400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:104132000-104132400	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:104132000-104132400	Enhancers	HSMM	muscle
32	chr8:104132000-104132400	Enhancers	HUVEC	blood vessel
33	chr8:104132000-104132800	Enhancers	Fetal Intestine Large	intestine
34	chr8:104132000-104133000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:104132000-104133000	Enhancers	Fetal Intestine Small	intestine
36	chr8:104132000-104133600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:104132000-104133800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:104132000-104134400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:104132200-104132400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:104132200-104132400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:104132200-104132400	Flanking Active TSS	NHEK	skin
42	chr8:104132200-104132600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:104132200-104132600	Enhancers	Fetal Thymus	thymus
44	chr8:104132200-104132600	Enhancers	GM12878-XiMat	blood
45	chr8:104132200-104132800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr8:104132200-104132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:104132200-104132800	Enhancers	Lung	lung
48	chr8:104132200-104133000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:104132200-104133200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:104132200-104133200	Enhancers	NHDF-Ad	bronchial

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