Variant report

Variant	rs1814969
Chromosome Location	chr5:76170814-76170815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76170197..76172032-chr5:76326129..76328554,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164252	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10063816	0.92[EUR][1000 genomes]
rs10070865	0.90[EUR][1000 genomes]
rs10462548	0.92[EUR][1000 genomes]
rs1320307	0.88[ASN][1000 genomes]
rs1320308	0.84[EUR][1000 genomes]
rs1320309	0.95[EUR][1000 genomes]
rs2359658	0.87[ASN][1000 genomes]
rs55863251	0.82[EUR][1000 genomes]
rs6414971	0.95[EUR][1000 genomes];0.95[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv524024	chr5:76166018-76187777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 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	chr5:76153000-76174400	Weak transcription	Primary T cells from cord blood	blood
2	chr5:76163800-76171800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:76165400-76171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:76166400-76171200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:76167000-76171000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:76169400-76171000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:76169400-76171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:76169400-76171400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:76169400-76171400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:76169400-76171600	Enhancers	A549	lung
11	chr5:76169600-76171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:76169600-76172000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:76169600-76172200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:76169600-76172800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:76169800-76171000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:76169800-76172200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:76170000-76171000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:76170200-76171200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:76170200-76172200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:76170400-76171000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:76170400-76171000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:76170400-76171000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:76170400-76171000	Active TSS	GM12878-XiMat	blood
24	chr5:76170400-76171200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:76170400-76171600	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:76170600-76171000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:76170600-76171000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:76170600-76171200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:76170600-76171200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:76170600-76171200	Active TSS	Placenta	Placenta
31	chr5:76170600-76173400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:76170600-76174800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:76170800-76171000	Enhancers	NH-A	brain
34	chr5:76170800-76171200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:76170800-76172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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