Variant report

Variant	rs164848
Chromosome Location	chr5:106900492-106900493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106892845..106895575-chr5:106898409..106900796,2	MCF-7	breast:
2	chr5:106899655..106901454-chr5:106901668..106904062,2	MCF-7	breast:
3	chr5:106895105..106896726-chr5:106898607..106901485,2	MCF-7	breast:
4	chr5:106900235..106903223-chr5:106906365..106909142,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs164844	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs164846	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs164972	0.92[ASN][1000 genomes]
rs168501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484103	0.82[ASN][1000 genomes]
rs354182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs37443	0.80[ASN][1000 genomes]
rs445747	0.84[ASN][1000 genomes]
rs459637	0.80[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
2	chr5:106889400-106903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:106890200-106900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:106892000-106901800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:106893200-106901800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:106893400-106901600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:106893800-106906000	Weak transcription	NHDF-Ad	bronchial
8	chr5:106894000-106902000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:106895000-106901600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:106895000-106901600	Weak transcription	HMEC	breast
11	chr5:106895000-106901800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:106895000-106906800	Weak transcription	Lung	lung
13	chr5:106897000-106900600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:106899200-106903600	Enhancers	Fetal Stomach	stomach
15	chr5:106899400-106901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:106899400-106901800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:106899400-106902200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:106899400-106904400	Enhancers	Fetal Lung	lung
19	chr5:106899400-106907000	Enhancers	Fetal Heart	heart
20	chr5:106899400-106915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:106899600-106900600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:106899600-106900800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:106899600-106900800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:106899600-106900800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:106899600-106900800	Enhancers	Small Intestine	intestine
26	chr5:106899600-106900800	Enhancers	HSMM	muscle
27	chr5:106899600-106900800	Enhancers	HSMMtube	muscle
28	chr5:106899600-106901600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:106899600-106901600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:106899600-106901600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:106899600-106904000	Enhancers	A549	lung
32	chr5:106899600-106904800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:106899600-106905000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:106899600-106905000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:106899600-106905200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:106899800-106901000	Enhancers	Adipose Nuclei	Adipose
37	chr5:106899800-106901000	Enhancers	Hela-S3	cervix
38	chr5:106899800-106901800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:106900000-106900600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:106900000-106900600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:106900000-106900800	Enhancers	NH-A	brain
42	chr5:106900000-106900800	Enhancers	NHLF	lung
43	chr5:106900000-106901000	Enhancers	Rectal Smooth Muscle	rectum
44	chr5:106900000-106901600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:106900000-106901600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:106900000-106902600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:106900000-106906000	Weak transcription	Fetal Brain Male	brain
48	chr5:106900200-106900600	Enhancers	Osteobl	bone
49	chr5:106900200-106900800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:106900200-106903000	Enhancers	Fetal Kidney	kidney

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