Variant report

Variant	rs252815
Chromosome Location	chr5:106721683-106721684
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	chr5:106715700..106717698-chr5:106719319..106721720,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs252803	0.83[EUR][1000 genomes]
rs252804	0.82[EUR][1000 genomes]
rs252805	0.83[EUR][1000 genomes]
rs252808	0.88[EUR][1000 genomes]
rs252810	0.81[EUR][1000 genomes]
rs252811	0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs252812	0.89[EUR][1000 genomes]
rs252814	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs252818	0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs252819	0.89[EUR][1000 genomes]
rs252983	0.82[EUR][1000 genomes]
rs252984	0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2562525	0.84[EUR][1000 genomes]
rs2731839	0.83[EUR][1000 genomes]
rs431982	0.89[EUR][1000 genomes]
rs467472	0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs468998	0.84[EUR][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106704600-106722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:106708800-106724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:106711400-106723600	Weak transcription	Fetal Kidney	kidney
4	chr5:106713000-106722800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:106713000-106723200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:106713800-106724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:106714200-106723200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106714200-106723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:106714400-106723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:106715000-106725000	Weak transcription	Esophagus	oesophagus
11	chr5:106716000-106722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:106716000-106723000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:106716600-106722800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:106716800-106723000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:106717200-106722200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:106717200-106723200	Weak transcription	Fetal Lung	lung
17	chr5:106717400-106723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:106717600-106722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:106717600-106722600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:106717600-106723000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:106717600-106723200	Weak transcription	Right Ventricle	heart
22	chr5:106717600-106723200	Weak transcription	NHLF	lung
23	chr5:106717600-106723600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:106717600-106723600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:106717600-106723800	Weak transcription	Fetal Stomach	stomach
26	chr5:106717600-106724800	Weak transcription	Placenta	Placenta
27	chr5:106717600-106724800	Weak transcription	Psoas Muscle	Psoas
28	chr5:106717800-106722600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:106717800-106722600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:106717800-106722600	Weak transcription	NHDF-Ad	bronchial
31	chr5:106717800-106722800	Weak transcription	Fetal Heart	heart
32	chr5:106717800-106722800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:106717800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:106717800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:106718200-106722000	Weak transcription	HSMMtube	muscle
36	chr5:106718200-106723200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:106718400-106722000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:106718400-106722600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:106718400-106724800	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:106718400-106725000	Weak transcription	Left Ventricle	heart
41	chr5:106718600-106722000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:106718600-106722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:106718600-106723200	Weak transcription	Fetal Thymus	thymus
44	chr5:106718600-106723200	Weak transcription	Thymus	Thymus
45	chr5:106718600-106723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:106718800-106723200	Weak transcription	Dnd41	blood
47	chr5:106719600-106723200	Weak transcription	NHEK	skin
48	chr5:106719800-106722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:106720200-106722600	Weak transcription	HMEC	breast
50	chr5:106720200-106722800	Weak transcription	Hela-S3	cervix

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