Variant report

Variant	rs1345077
Chromosome Location	chr5:112530750-112530751
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	chr5:112529246..112531364-chr5:112539078..112541052,2	MCF-7	breast:
2	chr5:112530552..112532228-chr5:112541838..112543468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10057729	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs13153785	0.82[TSI][hapmap]
rs1345078	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348431	0.87[GIH][hapmap];0.82[TSI][hapmap]
rs1348433	0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2044241	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs2416313	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2416314	0.81[EUR][1000 genomes]
rs2900071	0.82[TSI][hapmap]
rs4705802	0.84[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs6891544	0.91[ASN][1000 genomes]
rs7717494	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7718971	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs935163	0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
2	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112522000-112538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112522600-112534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:112522600-112535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:112522600-112535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:112522800-112535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:112524800-112531200	Weak transcription	Brain Substantia Nigra	brain
10	chr5:112524800-112531800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:112525800-112533400	Weak transcription	Spleen	Spleen
12	chr5:112526400-112535000	Weak transcription	NH-A	brain
13	chr5:112526600-112531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:112526600-112535000	Weak transcription	NHDF-Ad	bronchial
15	chr5:112526600-112535200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:112526800-112535000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:112526800-112535000	Weak transcription	HMEC	breast
18	chr5:112527400-112530800	Weak transcription	NHEK	skin
19	chr5:112527400-112538800	Weak transcription	Esophagus	oesophagus
20	chr5:112527800-112533800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:112528600-112538600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:112529000-112531400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:112529000-112532200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112529000-112538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:112529200-112533600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112529400-112531200	Enhancers	Liver	Liver
27	chr5:112529400-112532000	Enhancers	Fetal Heart	heart
28	chr5:112529400-112535000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:112529600-112535000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:112529800-112532200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:112530000-112531400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:112530000-112531600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:112530000-112532200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:112530200-112530800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:112530200-112531000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr5:112530200-112532000	Enhancers	Left Ventricle	heart
37	chr5:112530200-112532200	Enhancers	Ovary	ovary
38	chr5:112530200-112532600	Enhancers	Psoas Muscle	Psoas
39	chr5:112530200-112538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:112530400-112530800	Weak transcription	Aorta	Aorta
41	chr5:112530400-112534000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:112530600-112531200	Enhancers	Fetal Stomach	stomach
43	chr5:112530600-112531200	Enhancers	Right Ventricle	heart
44	chr5:112530600-112531400	Enhancers	Placenta	Placenta
45	chr5:112530600-112531400	ZNF genes & repeats	Lung	lung
46	chr5:112530600-112531800	Enhancers	Fetal Lung	lung
47	chr5:112530600-112532000	Enhancers	Adipose Nuclei	Adipose
48	chr5:112530600-112532000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:112530600-112532200	Genic enhancers	Fetal Muscle Leg	muscle
50	chr5:112530600-112536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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