Variant report

Variant	rs17084658
Chromosome Location	chr4:55570203-55570204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17084642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56411694	1.00[AFR][1000 genomes];1.00[AMR][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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1003338	chr4:55566703-55582342	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
4	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
5	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:55561400-55572000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:55563200-55573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:55565000-55573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:55565000-55574000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:55565000-55576000	Weak transcription	Ovary	ovary
13	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
17	chr4:55567800-55574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55568600-55570800	Strong transcription	NHDF-Ad	bronchial
20	chr4:55568600-55571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:55569200-55572200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:55569400-55572000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:55569600-55571000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:55569600-55571400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:55569800-55571400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:55569800-55571600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr4:55570200-55570800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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