Variant report

Variant	rs352612
Chromosome Location	chr5:106903466-106903467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106903381..106905654-chr5:106906317..106907997,2	MCF-7	breast:
2	chr5:106879004..106882642-chr5:106901897..106905418,3	MCF-7	breast:
3	chr5:106901247..106903878-chr5:106904972..106907899,2	MCF-7	breast:
4	chr5:106899655..106901454-chr5:106901668..106904062,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1471041	0.90[ASN][1000 genomes]
rs149155	0.90[ASN][1000 genomes]
rs163614	0.90[ASN][1000 genomes]
rs163889	0.90[ASN][1000 genomes]
rs163890	0.90[ASN][1000 genomes]
rs164697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164851	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164971	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352613	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395904	0.81[ASN][1000 genomes]
rs60575744	0.90[ASN][1000 genomes]
rs849520	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
2	chr5:106893800-106906000	Weak transcription	NHDF-Ad	bronchial
3	chr5:106895000-106906800	Weak transcription	Lung	lung
4	chr5:106899200-106903600	Enhancers	Fetal Stomach	stomach
5	chr5:106899400-106904400	Enhancers	Fetal Lung	lung
6	chr5:106899400-106907000	Enhancers	Fetal Heart	heart
7	chr5:106899400-106915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:106899600-106904000	Enhancers	A549	lung
9	chr5:106899600-106904800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:106899600-106905000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:106899600-106905000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:106899600-106905200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:106900000-106906000	Weak transcription	Fetal Brain Male	brain
14	chr5:106900200-106906800	Weak transcription	Aorta	Aorta
15	chr5:106900800-106906000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:106900800-106906200	Weak transcription	Small Intestine	intestine
17	chr5:106900800-106906800	Weak transcription	HSMM	muscle
18	chr5:106901000-106905600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:106901000-106906600	Weak transcription	Adipose Nuclei	Adipose
20	chr5:106901200-106906600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:106901400-106906800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:106901600-106906800	Enhancers	HMEC	breast
23	chr5:106901800-106903600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:106901800-106905400	Weak transcription	Brain Germinal Matrix	brain
25	chr5:106902000-106904000	Weak transcription	Dnd41	blood
26	chr5:106902000-106905000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:106902000-106906000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:106902000-106906600	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:106902000-106906600	Weak transcription	Left Ventricle	heart
30	chr5:106902000-106906800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:106902000-106906800	Weak transcription	Ovary	ovary
32	chr5:106902000-106907000	Weak transcription	Osteobl	bone
33	chr5:106902200-106905000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:106902200-106907000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:106902200-106907200	Weak transcription	NHLF	lung
36	chr5:106902200-106907400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:106902400-106905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:106902400-106905800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:106902400-106906600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:106902400-106906800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:106902400-106906800	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:106902400-106907600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:106902600-106904200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:106902600-106904200	Weak transcription	HUVEC	blood vessel
45	chr5:106902600-106905800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:106902600-106906000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:106902600-106906600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:106902600-106907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:106902800-106904400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:106902800-106906800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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