Variant report

Variant	rs2080220
Chromosome Location	chr5:5216319-5216320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10486352	0.81[EUR][1000 genomes]
rs17141354	0.95[EUR][1000 genomes]
rs17141358	1.00[EUR][1000 genomes]
rs17141363	1.00[EUR][1000 genomes]
rs17150289	0.81[EUR][1000 genomes]
rs1990536	1.00[EUR][1000 genomes]
rs1990537	1.00[EUR][1000 genomes]
rs56129840	0.90[EUR][1000 genomes]
rs60649499	0.85[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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3327445	chr5:5215102-5217100	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5193800-5219000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:5199000-5240000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:5199800-5228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:5201400-5223000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:5201400-5226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:5202600-5240200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:5205400-5222400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:5209600-5221000	Weak transcription	Ovary	ovary
11	chr5:5209600-5222000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:5210000-5220800	Weak transcription	NH-A	brain
13	chr5:5210200-5217800	Weak transcription	Fetal Kidney	kidney
14	chr5:5210200-5218400	Weak transcription	Psoas Muscle	Psoas

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links