Variant report

Variant	rs2237014
Chromosome Location	chr4:55584433-55584434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1124007	0.96[ASN][1000 genomes]
rs11935331	0.96[ASN][1000 genomes]
rs17084694	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17084702	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17084716	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17084733	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2237012	0.96[ASN][1000 genomes]
rs2276949	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298976	0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3733542	0.96[ASN][1000 genomes]
rs3796776	0.92[ASN][1000 genomes]
rs3822214	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73234238	0.96[ASN][1000 genomes]
rs8022	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1010844	chr4:55573693-55587972	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv997954	chr4:55575003-55587787	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
2	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:55575000-55593600	Weak transcription	NHDF-Ad	bronchial
8	chr4:55576200-55592800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:55576200-55593600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:55576400-55602000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:55576400-55602600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:55576600-55585200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:55576600-55593200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:55577400-55593200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:55579000-55585200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:55581200-55589800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:55582000-55584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:55583000-55584800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr4:55583800-55586400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:55584200-55587800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:55584400-55585200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:55584400-55606200	Weak transcription	Brain Hippocampus Middle	brain

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